Canonical Allele Identifier: CA1492804334

Gene: MFSD8

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921765T= , CM000666.2:g.127921765T=	GRCh38
NC_000004.11:g.128842920T= , CM000666.1:g.128842920T=	GRCh37
NC_000004.10:g.129062370T=	NCBI36
NG_008657.1:g.49220A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1109A=	ENSP00000296468.3:p.His370=
ENST00000509826.2:c.*430A=	ENSP00000421176.2:n.*430A=
ENST00000513559.6:c.827A=	ENSP00000425000.2:p.His276=
ENST00000515130.6:c.870A=	ENSP00000493056.1:p.Ala290=
ENST00000641025.1:c.1005A=	ENSP00000493346.1:p.Ala335=
ENST00000641092.1:c.804A=	ENSP00000493392.1:p.Ala268=
ENST00000641133.1:c.*423A=	ENSP00000493192.1:n.*423A=
ENST00000641146.1:n.975A=
ENST00000641147.1:c.659A=	ENSP00000493133.1:p.His220=
ENST00000641178.1:c.974A=	ENSP00000492989.1:p.His325=
ENST00000641186.1:c.995A=	ENSP00000493347.1:p.His332=
ENST00000641228.1:c.804A=	ENSP00000493194.1:p.Ala268=
ENST00000641332.1:c.*170A=	ENSP00000493397.1:n.*170A=
ENST00000641340.1:c.*238A=	ENSP00000493191.1:n.*238A=
ENST00000641388.1:n.356A=
ENST00000641393.1:c.659A=	ENSP00000493197.1:p.His220=
ENST00000641397.1:c.690A=	ENSP00000493406.1:p.Ala230=
ENST00000641413.1:c.34A=
ENST00000641434.1:c.1109A=	ENSP00000493279.1:p.His370=
ENST00000641464.1:c.*342A=	ENSP00000493438.1:n.*342A=
ENST00000641482.1:c.1005A=	ENSP00000493277.1:p.Ala335=
ENST00000641508.1:c.*342A=	ENSP00000493209.1:n.*342A=
ENST00000641509.1:c.794A=	ENSP00000493459.1:p.His265=
ENST00000641590.1:c.891A=	ENSP00000493132.1:p.Ala297=
ENST00000641658.1:c.*274A=	ENSP00000492987.1:n.*274A=
ENST00000641686.2:c.1109A= MANE Select	ENSP00000493218.2:p.His370=
ENST00000641690.1:c.908A=	ENSP00000492966.1:p.His303=
ENST00000641742.1:c.*274A=	ENSP00000493315.1:n.*274A=
ENST00000641748.1:c.1109A=	ENSP00000493330.1:p.His370=
ENST00000641753.1:c.936A=
ENST00000641774.1:c.*361A=	ENSP00000492960.1:n.*361A=
ENST00000641830.1:c.341A=
ENST00000641843.1:c.*170A=	ENSP00000493174.1:n.*170A=
ENST00000641869.1:c.310A=
ENST00000641870.1:c.*170A=	ENSP00000493044.1:n.*170A=
ENST00000641882.1:c.*274A=	ENSP00000493301.1:n.*274A=
ENST00000641928.1:c.*238A=	ENSP00000493418.1:n.*238A=
ENST00000641949.1:c.554-929A=	ENSP00000492891.1:n.554-929A=
ENST00000642012.1:n.973A=
ENST00000642034.1:c.891A=	ENSP00000493285.1:p.Ala297=
ENST00000642042.1:c.1109A=	ENSP00000493260.1:p.His370=
ENST00000642078.1:c.*170A=	ENSP00000492885.1:n.*170A=
ENST00000296468.7:c.1109A=	ENSP00000296468.3:p.His370=
ENST00000504126.1:n.137A=
ENST00000505284.5:n.900A=
ENST00000513559.5:c.974A=	ENSP00000425000.1:p.His325=
ENST00000515130.5:n.1451A=
NM_152778.2:c.1109A=	NP_689991.1:p.His370=
XM_005262893.1:c.1109A=	XP_005262950.1:p.His370=
XM_005262896.1:c.962A=	XP_005262953.1:p.His321=
XM_005262897.1:c.908A=	XP_005262954.1:p.His303=
XM_005262898.2:c.1005A=	XP_005262955.1:p.Ala335=
XM_011531830.1:c.995A=	XP_011530132.1:p.His332=
XM_011531831.1:c.794A=	XP_011530133.1:p.His265=
XM_011531832.1:c.891A=	XP_011530134.1:p.Ala297=
XR_938717.1:n.1186A=
NM_001363520.1:c.908A=	NP_001350449.1:p.His303=
NM_001363521.1:c.794A=	NP_001350450.1:p.His265=
XM_005262898.3:c.1005A=	XP_005262955.1:p.Ala335=
XM_017007989.1:c.804A=	XP_016863478.1:p.Ala268=
XM_024453981.1:c.974A=	XP_024309749.1:p.His325=
XM_024453982.1:c.860A=	XP_024309750.1:p.His287=
XM_024453983.1:c.659A=	XP_024309751.1:p.His220=
XR_001741194.1:n.1082A=
XR_001741195.1:n.968A=
XR_001741196.1:n.881A=
XR_001741197.1:n.1041A=
XR_001741198.2:n.937A=
XR_001741199.1:n.937A=
XR_938717.2:n.1186A=
NM_001363520.2:c.908A=	NP_001350449.1:p.His303=
NM_001363521.2:c.794A=	NP_001350450.1:p.His265=
NM_001371590.1:c.974A=	NP_001358519.1:p.His325=
NM_001371591.1:c.1109A=	NP_001358520.1:p.His370=
NM_001371592.1:c.1115A=	NP_001358521.1:p.His372=
NM_001371593.1:c.995A=	NP_001358522.1:p.His332=
NM_001371594.1:c.962A=	NP_001358523.1:p.His321=
NM_001371595.1:c.827A=	NP_001358524.1:p.His276=
NM_001371596.2:c.1109A= MANE Select	NP_001358525.1:p.His370=
NM_152778.3:c.1109A=	NP_689991.1:p.His370=
NM_152778.4:c.1109A=	NP_689991.1:p.His370=