Canonical Allele Identifier: CA10646471

Gene: SLC24A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65650498T>C , CM000677.2:g.65650498T>C	GRCh38
NC_000015.9:g.65942836T>C , CM000677.1:g.65942836T>C	GRCh37
NC_000015.8:g.63729890T>C	NCBI36
NG_031968.1:g.33567T>C
NG_031968.2:g.44094T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004727.3:c.2349T>C MANE Select	NP_004718.1:p.Gly783=
ENST00000261892.11:c.2349T>C MANE Select	ENSP00000261892.6:p.Gly783=
NM_001254740.1:c.330T>C	NP_001241669.1:p.Gly110=
NM_001254740.2:c.330T>C	NP_001241669.1:p.Gly110=
NM_001301031.1:c.2349T>C	NP_001287960.1:p.Gly783=
NM_001301032.1:c.2295T>C	NP_001287961.1:p.Gly765=
NM_001301033.1:c.2295T>C	NP_001287962.1:p.Gly765=
NM_001301033.2:c.2295T>C	NP_001287962.1:p.Gly765=
NM_004727.2:c.2349T>C	NP_004718.1:p.Gly783=
ENST00000261892.10:c.2349T>C	ENSP00000261892.6:p.Gly783=
ENST00000339868.10:c.2349T>C	ENSP00000341837.7:p.Gly783=
ENST00000399033.8:c.2349T>C	ENSP00000381991.4:p.Gly783=
ENST00000434116.6:n.3770T>C
ENST00000449142.2:n.398T>C
ENST00000537259.5:c.2295T>C	ENSP00000439693.1:p.Gly765=
ENST00000539516.1:n.703T>C
ENST00000544319.6:c.2007T>C	ENSP00000445163.1:p.Gly669=
ENST00000546330.1:c.2295T>C	ENSP00000439190.1:p.Gly765=
XM_005254778.3:c.2349T>C	XP_005254835.1:p.Gly783=
XM_005254778.4:c.2349T>C	XP_005254835.1:p.Gly783=
XM_006720764.2:c.2349T>C	XP_006720827.1:p.Gly783=
XM_006720767.2:c.2349T>C	XP_006720830.1:p.Gly783=
XM_006720768.2:c.2007T>C	XP_006720831.1:p.Gly669=
XM_006720768.4:c.2007T>C	XP_006720831.1:p.Gly669=
XM_006720769.2:c.2349T>C	XP_006720832.1:p.Gly783=
XM_011522219.1:c.2349T>C	XP_011520521.1:p.Gly783=
XM_011522220.1:c.2295T>C	XP_011520522.1:p.Gly765=
XM_011522220.3:c.2295T>C	XP_011520522.1:p.Gly765=
XM_011522221.1:c.2349T>C	XP_011520523.1:p.Gly783=
XM_011522221.3:c.2349T>C	XP_011520523.1:p.Gly783=
XM_011522222.1:c.2349T>C	XP_011520524.1:p.Gly783=
XM_011522222.3:c.2349T>C	XP_011520524.1:p.Gly783=
XM_011522223.1:c.2295T>C	XP_011520525.1:p.Gly765=
XM_011522225.1:c.2349T>C	XP_011520527.1:p.Gly783=
XM_017022724.2:c.2349T>C	XP_016878213.1:p.Gly783=
XM_017022725.2:c.2349T>C	XP_016878214.1:p.Gly783=
XM_024450103.1:c.2349T>C	XP_024305871.1:p.Gly783=
XM_024450104.1:c.2349T>C	XP_024305872.1:p.Gly783=
XM_024450105.1:c.2349T>C	XP_024305873.1:p.Gly783=
XM_024450106.1:c.2295T>C	XP_024305874.1:p.Gly765=