Canonical Allele Identifier: CA7620318

Gene: SLC24A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65653837G>A , CM000677.2:g.65653837G>A	GRCh38
NC_000015.9:g.65946175G>A , CM000677.1:g.65946175G>A	GRCh37
NC_000015.8:g.63733229G>A	NCBI36
NG_031968.1:g.36906G>A
NG_031968.2:g.47433G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004727.3:c.3058G>A MANE Select	NP_004718.1:p.Val1020Ile
ENST00000261892.11:c.3058G>A MANE Select	ENSP00000261892.6:p.Val1020Ile
NM_001254740.1:c.1039G>A	NP_001241669.1:p.Val347Ile
NM_001254740.2:c.1039G>A	NP_001241669.1:p.Val347Ile
NM_001301031.1:c.2968G>A	NP_001287960.1:p.Val990Ile
NM_001301032.1:c.3004G>A	NP_001287961.1:p.Val1002Ile
NM_001301033.1:c.2996+1029G>A	NP_001287962.1:n.2996+1029G>A
NM_001301033.2:c.2996+1029G>A	NP_001287962.1:n.2996+1029G>A
NM_004727.2:c.3058G>A	NP_004718.1:p.Val1020Ile
ENST00000261892.10:c.3058G>A	ENSP00000261892.6:p.Val1020Ile
ENST00000339868.10:c.2968G>A	ENSP00000341837.7:p.Val990Ile
ENST00000399033.8:c.2968G>A	ENSP00000381991.4:p.Val990Ile
ENST00000449142.2:n.1107G>A
ENST00000505666.2:c.71-893G>A
ENST00000537259.5:c.2996+1029G>A	ENSP00000439693.1:n.2996+1029G>A
ENST00000544319.6:c.2716G>A	ENSP00000445163.1:p.Val906Ile
ENST00000546330.1:c.3004G>A	ENSP00000439190.1:p.Val1002Ile
XM_005254778.3:c.3058G>A	XP_005254835.1:p.Val1020Ile
XM_005254778.4:c.3058G>A	XP_005254835.1:p.Val1020Ile
XM_006720764.2:c.3058G>A	XP_006720827.1:p.Val1020Ile
XM_006720767.2:c.3050+1029G>A	XP_006720830.1:n.3050+1029G>A
XM_006720768.2:c.2716G>A	XP_006720831.1:p.Val906Ile
XM_006720768.4:c.2716G>A	XP_006720831.1:p.Val906Ile
XM_006720769.2:c.2793+2895G>A	XP_006720832.1:n.2793+2895G>A
XM_011522219.1:c.3058G>A	XP_011520521.1:p.Val1020Ile
XM_011522220.1:c.3004G>A	XP_011520522.1:p.Val1002Ile
XM_011522220.3:c.3004G>A	XP_011520522.1:p.Val1002Ile
XM_011522221.1:c.2968G>A	XP_011520523.1:p.Val990Ile
XM_011522221.3:c.2968G>A	XP_011520523.1:p.Val990Ile
XM_011522222.1:c.3050+1029G>A	XP_011520524.1:n.3050+1029G>A
XM_011522222.3:c.3050+1029G>A	XP_011520524.1:n.3050+1029G>A
XM_011522223.1:c.2996+1029G>A	XP_011520525.1:n.2996+1029G>A
XM_011522225.1:c.2793+2895G>A	XP_011520527.1:n.2793+2895G>A
XM_017022724.2:c.3051-893G>A	XP_016878213.1:n.3051-893G>A
XM_017022725.2:c.2794-893G>A	XP_016878214.1:n.2794-893G>A
XM_024450103.1:c.3058G>A	XP_024305871.1:p.Val1020Ile
XM_024450104.1:c.3058G>A	XP_024305872.1:p.Val1020Ile
XM_024450105.1:c.3058G>A	XP_024305873.1:p.Val1020Ile
XM_024450106.1:c.2996+1029G>A	XP_024305874.1:n.2996+1029G>A