Canonical Allele Identifier: CA1492804055

Gene: MFSD8

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921570A= , CM000666.2:g.127921570A=	GRCh38
NC_000004.11:g.128842725A= , CM000666.1:g.128842725A=	GRCh37
NC_000004.10:g.129062175A=	NCBI36
NG_008657.1:g.49415T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1304T=	ENSP00000296468.3:p.Leu435=
ENST00000509826.2:c.*625T=	ENSP00000421176.2:n.*625T=
ENST00000513559.6:c.1022T=	ENSP00000425000.2:p.Leu341=
ENST00000515130.6:c.*189T=	ENSP00000493056.1:n.*189T=
ENST00000641025.1:c.*189T=	ENSP00000493346.1:n.*189T=
ENST00000641092.1:c.*189T=	ENSP00000493392.1:n.*189T=
ENST00000641133.1:c.*618T=	ENSP00000493192.1:n.*618T=
ENST00000641146.1:n.1170T=
ENST00000641147.1:c.854T=	ENSP00000493133.1:p.Leu285=
ENST00000641178.1:c.1169T=	ENSP00000492989.1:p.Leu390=
ENST00000641186.1:c.1190T=	ENSP00000493347.1:p.Leu397=
ENST00000641228.1:c.*189T=	ENSP00000493194.1:n.*189T=
ENST00000641332.1:c.*365T=	ENSP00000493397.1:n.*365T=
ENST00000641340.1:c.*433T=	ENSP00000493191.1:n.*433T=
ENST00000641388.1:n.551T=
ENST00000641393.1:c.854T=	ENSP00000493197.1:p.Leu285=
ENST00000641397.1:c.*189T=	ENSP00000493406.1:n.*189T=
ENST00000641413.1:c.229T=
ENST00000641434.1:c.1304T=	ENSP00000493279.1:p.Leu435=
ENST00000641464.1:c.*537T=	ENSP00000493438.1:n.*537T=
ENST00000641482.1:c.*189T=	ENSP00000493277.1:n.*189T=
ENST00000641508.1:c.*537T=	ENSP00000493209.1:n.*537T=
ENST00000641509.1:c.989T=	ENSP00000493459.1:p.Leu330=
ENST00000641590.1:c.*189T=	ENSP00000493132.1:n.*189T=
ENST00000641658.1:c.*469T=	ENSP00000492987.1:n.*469T=
ENST00000641686.2:c.1304T= MANE Select	ENSP00000493218.2:p.Leu435=
ENST00000641690.1:c.1103T=	ENSP00000492966.1:p.Leu368=
ENST00000641742.1:c.*469T=	ENSP00000493315.1:n.*469T=
ENST00000641748.1:c.1304T=	ENSP00000493330.1:p.Leu435=
ENST00000641753.1:c.1131T=
ENST00000641774.1:c.*556T=	ENSP00000492960.1:n.*556T=
ENST00000641830.1:c.536T=
ENST00000641843.1:c.*365T=	ENSP00000493174.1:n.*365T=
ENST00000641869.1:c.505T=
ENST00000641870.1:c.*365T=	ENSP00000493044.1:n.*365T=
ENST00000641882.1:c.*469T=	ENSP00000493301.1:n.*469T=
ENST00000641928.1:c.*433T=	ENSP00000493418.1:n.*433T=
ENST00000641949.1:c.554-734T=	ENSP00000492891.1:n.554-734T=
ENST00000642012.1:n.1168T=
ENST00000642034.1:c.*189T=	ENSP00000493285.1:n.*189T=
ENST00000642042.1:c.1304T=	ENSP00000493260.1:p.Leu435=
ENST00000642078.1:c.*365T=	ENSP00000492885.1:n.*365T=
ENST00000296468.7:c.1304T=	ENSP00000296468.3:p.Leu435=
ENST00000504126.1:n.332T=
ENST00000513559.5:c.1169T=	ENSP00000425000.1:p.Leu390=
ENST00000515130.5:n.1646T=
NM_152778.2:c.1304T=	NP_689991.1:p.Leu435=
XM_005262893.1:c.1304T=	XP_005262950.1:p.Leu435=
XM_005262896.1:c.1157T=	XP_005262953.1:p.Leu386=
XM_005262897.1:c.1103T=	XP_005262954.1:p.Leu368=
XM_005262898.2:c.*189T=	XP_005262955.1:n.*189T=
XM_011531830.1:c.1190T=	XP_011530132.1:p.Leu397=
XM_011531831.1:c.989T=	XP_011530133.1:p.Leu330=
XM_011531832.1:c.*189T=	XP_011530134.1:n.*189T=
XR_938717.1:n.1381T=
NM_001363520.1:c.1103T=	NP_001350449.1:p.Leu368=
NM_001363521.1:c.989T=	NP_001350450.1:p.Leu330=
XM_005262898.3:c.*189T=	XP_005262955.1:n.*189T=
XM_017007989.1:c.*189T=	XP_016863478.1:n.*189T=
XM_024453981.1:c.1169T=	XP_024309749.1:p.Leu390=
XM_024453982.1:c.1055T=	XP_024309750.1:p.Leu352=
XM_024453983.1:c.854T=	XP_024309751.1:p.Leu285=
XR_001741194.1:n.1277T=
XR_001741195.1:n.1163T=
XR_001741196.1:n.1076T=
XR_001741197.1:n.1236T=
XR_001741198.2:n.1132T=
XR_001741199.1:n.1132T=
XR_938717.2:n.1381T=
NM_001363520.2:c.1103T=	NP_001350449.1:p.Leu368=
NM_001363521.2:c.989T=	NP_001350450.1:p.Leu330=
NM_001371590.1:c.1169T=	NP_001358519.1:p.Leu390=
NM_001371591.1:c.1304T=	NP_001358520.1:p.Leu435=
NM_001371592.1:c.1310T=	NP_001358521.1:p.Leu437=
NM_001371593.1:c.1190T=	NP_001358522.1:p.Leu397=
NM_001371594.1:c.1157T=	NP_001358523.1:p.Leu386=
NM_001371595.1:c.1022T=	NP_001358524.1:p.Leu341=
NM_001371596.2:c.1304T= MANE Select	NP_001358525.1:p.Leu435=
NM_152778.3:c.1304T=	NP_689991.1:p.Leu435=
NM_152778.4:c.1304T=	NP_689991.1:p.Leu435=