Canonical Allele Identifier: CA7620290

Gene: SLC24A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65652741C>T , CM000677.2:g.65652741C>T	GRCh38
NC_000015.9:g.65945079C>T , CM000677.1:g.65945079C>T	GRCh37
NC_000015.8:g.63732133C>T	NCBI36
NG_031968.1:g.35810C>T
NG_031968.2:g.46337C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004727.3:c.2983C>T MANE Select	NP_004718.1:p.Arg995Ter
ENST00000261892.11:c.2983C>T MANE Select	ENSP00000261892.6:p.Arg995Ter
NM_001254740.1:c.964C>T	NP_001241669.1:p.Arg322Ter
NM_001254740.2:c.964C>T	NP_001241669.1:p.Arg322Ter
NM_001301031.1:c.2893C>T	NP_001287960.1:p.Arg965Ter
NM_001301032.1:c.2929C>T	NP_001287961.1:p.Arg977Ter
NM_001301033.1:c.2929C>T	NP_001287962.1:p.Arg977Ter
NM_001301033.2:c.2929C>T	NP_001287962.1:p.Arg977Ter
NM_004727.2:c.2983C>T	NP_004718.1:p.Arg995Ter
ENST00000261892.10:c.2983C>T	ENSP00000261892.6:p.Arg995Ter
ENST00000339868.10:c.2893C>T	ENSP00000341837.7:p.Arg965Ter
ENST00000399033.8:c.2893C>T	ENSP00000381991.4:p.Arg965Ter
ENST00000434116.6:n.5286C>T
ENST00000449142.2:n.1032C>T
ENST00000505666.2:c.3C>T
ENST00000537259.5:c.2929C>T	ENSP00000439693.1:p.Arg977Ter
ENST00000544319.6:c.2641C>T	ENSP00000445163.1:p.Arg881Ter
ENST00000546330.1:c.2929C>T	ENSP00000439190.1:p.Arg977Ter
XM_005254778.3:c.2983C>T	XP_005254835.1:p.Arg995Ter
XM_005254778.4:c.2983C>T	XP_005254835.1:p.Arg995Ter
XM_006720764.2:c.2983C>T	XP_006720827.1:p.Arg995Ter
XM_006720767.2:c.2983C>T	XP_006720830.1:p.Arg995Ter
XM_006720768.2:c.2641C>T	XP_006720831.1:p.Arg881Ter
XM_006720768.4:c.2641C>T	XP_006720831.1:p.Arg881Ter
XM_006720769.2:c.2793+1799C>T	XP_006720832.1:n.2793+1799C>T
XM_011522219.1:c.2983C>T	XP_011520521.1:p.Arg995Ter
XM_011522220.1:c.2929C>T	XP_011520522.1:p.Arg977Ter
XM_011522220.3:c.2929C>T	XP_011520522.1:p.Arg977Ter
XM_011522221.1:c.2893C>T	XP_011520523.1:p.Arg965Ter
XM_011522221.3:c.2893C>T	XP_011520523.1:p.Arg965Ter
XM_011522222.1:c.2983C>T	XP_011520524.1:p.Arg995Ter
XM_011522222.3:c.2983C>T	XP_011520524.1:p.Arg995Ter
XM_011522223.1:c.2929C>T	XP_011520525.1:p.Arg977Ter
XM_011522225.1:c.2793+1799C>T	XP_011520527.1:n.2793+1799C>T
XM_017022724.2:c.2983C>T	XP_016878213.1:p.Arg995Ter
XM_017022725.2:c.2793+1799C>T	XP_016878214.1:n.2793+1799C>T
XM_024450103.1:c.2983C>T	XP_024305871.1:p.Arg995Ter
XM_024450104.1:c.2983C>T	XP_024305872.1:p.Arg995Ter
XM_024450105.1:c.2983C>T	XP_024305873.1:p.Arg995Ter
XM_024450106.1:c.2929C>T	XP_024305874.1:p.Arg977Ter