Canonical Allele Identifier: CA7620320

Gene: SLC24A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65653851T>C , CM000677.2:g.65653851T>C	GRCh38
NC_000015.9:g.65946189T>C , CM000677.1:g.65946189T>C	GRCh37
NC_000015.8:g.63733243T>C	NCBI36
NG_031968.1:g.36920T>C
NG_031968.2:g.47447T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004727.3:c.3072T>C MANE Select	NP_004718.1:p.Leu1024=
ENST00000261892.11:c.3072T>C MANE Select	ENSP00000261892.6:p.Leu1024=
NM_001254740.1:c.1053T>C	NP_001241669.1:p.Leu351=
NM_001254740.2:c.1053T>C	NP_001241669.1:p.Leu351=
NM_001301031.1:c.2982T>C	NP_001287960.1:p.Leu994=
NM_001301032.1:c.3018T>C	NP_001287961.1:p.Leu1006=
NM_001301033.1:c.2996+1043T>C	NP_001287962.1:n.2996+1043T>C
NM_001301033.2:c.2996+1043T>C	NP_001287962.1:n.2996+1043T>C
NM_004727.2:c.3072T>C	NP_004718.1:p.Leu1024=
ENST00000261892.10:c.3072T>C	ENSP00000261892.6:p.Leu1024=
ENST00000339868.10:c.2982T>C	ENSP00000341837.7:p.Leu994=
ENST00000399033.8:c.2982T>C	ENSP00000381991.4:p.Leu994=
ENST00000449142.2:n.1121T>C
ENST00000505666.2:c.71-879T>C
ENST00000537259.5:c.2996+1043T>C	ENSP00000439693.1:n.2996+1043T>C
ENST00000544319.6:c.2730T>C	ENSP00000445163.1:p.Leu910=
ENST00000546330.1:c.3018T>C	ENSP00000439190.1:p.Leu1006=
XM_005254778.3:c.3072T>C	XP_005254835.1:p.Leu1024=
XM_005254778.4:c.3072T>C	XP_005254835.1:p.Leu1024=
XM_006720764.2:c.3072T>C	XP_006720827.1:p.Leu1024=
XM_006720767.2:c.3050+1043T>C	XP_006720830.1:n.3050+1043T>C
XM_006720768.2:c.2730T>C	XP_006720831.1:p.Leu910=
XM_006720768.4:c.2730T>C	XP_006720831.1:p.Leu910=
XM_006720769.2:c.2793+2909T>C	XP_006720832.1:n.2793+2909T>C
XM_011522219.1:c.3072T>C	XP_011520521.1:p.Leu1024=
XM_011522220.1:c.3018T>C	XP_011520522.1:p.Leu1006=
XM_011522220.3:c.3018T>C	XP_011520522.1:p.Leu1006=
XM_011522221.1:c.2982T>C	XP_011520523.1:p.Leu994=
XM_011522221.3:c.2982T>C	XP_011520523.1:p.Leu994=
XM_011522222.1:c.3050+1043T>C	XP_011520524.1:n.3050+1043T>C
XM_011522222.3:c.3050+1043T>C	XP_011520524.1:n.3050+1043T>C
XM_011522223.1:c.2996+1043T>C	XP_011520525.1:n.2996+1043T>C
XM_011522225.1:c.2793+2909T>C	XP_011520527.1:n.2793+2909T>C
XM_017022724.2:c.3051-879T>C	XP_016878213.1:n.3051-879T>C
XM_017022725.2:c.2794-879T>C	XP_016878214.1:n.2794-879T>C
XM_024450103.1:c.3072T>C	XP_024305871.1:p.Leu1024=
XM_024450104.1:c.3072T>C	XP_024305872.1:p.Leu1024=
XM_024450105.1:c.3072T>C	XP_024305873.1:p.Leu1024=
XM_024450106.1:c.2996+1043T>C	XP_024305874.1:n.2996+1043T>C