Canonical Allele Identifier: CA7620191

Gene: SLC24A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65650900C>T , CM000677.2:g.65650900C>T	GRCh38
NC_000015.9:g.65943238C>T , CM000677.1:g.65943238C>T	GRCh37
NC_000015.8:g.63730292C>T	NCBI36
NG_031968.1:g.33969C>T
NG_031968.2:g.44496C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004727.3:c.2751C>T MANE Select	NP_004718.1:p.Ile917=
ENST00000261892.11:c.2751C>T MANE Select	ENSP00000261892.6:p.Ile917=
NM_001254740.1:c.732C>T	NP_001241669.1:p.Ile244=
NM_001254740.2:c.732C>T	NP_001241669.1:p.Ile244=
NM_001301031.1:c.2751C>T	NP_001287960.1:p.Ile917=
NM_001301032.1:c.2697C>T	NP_001287961.1:p.Ile899=
NM_001301033.1:c.2697C>T	NP_001287962.1:p.Ile899=
NM_001301033.2:c.2697C>T	NP_001287962.1:p.Ile899=
NM_004727.2:c.2751C>T	NP_004718.1:p.Ile917=
ENST00000261892.10:c.2751C>T	ENSP00000261892.6:p.Ile917=
ENST00000339868.10:c.2751C>T	ENSP00000341837.7:p.Ile917=
ENST00000399033.8:c.2751C>T	ENSP00000381991.4:p.Ile917=
ENST00000434116.6:n.4172C>T
ENST00000449142.2:n.800C>T
ENST00000537259.5:c.2697C>T	ENSP00000439693.1:p.Ile899=
ENST00000544319.6:c.2409C>T	ENSP00000445163.1:p.Ile803=
ENST00000546330.1:c.2697C>T	ENSP00000439190.1:p.Ile899=
XM_005254778.3:c.2751C>T	XP_005254835.1:p.Ile917=
XM_005254778.4:c.2751C>T	XP_005254835.1:p.Ile917=
XM_006720764.2:c.2751C>T	XP_006720827.1:p.Ile917=
XM_006720767.2:c.2751C>T	XP_006720830.1:p.Ile917=
XM_006720768.2:c.2409C>T	XP_006720831.1:p.Ile803=
XM_006720768.4:c.2409C>T	XP_006720831.1:p.Ile803=
XM_006720769.2:c.2751C>T	XP_006720832.1:p.Ile917=
XM_011522219.1:c.2751C>T	XP_011520521.1:p.Ile917=
XM_011522220.1:c.2697C>T	XP_011520522.1:p.Ile899=
XM_011522220.3:c.2697C>T	XP_011520522.1:p.Ile899=
XM_011522221.1:c.2751C>T	XP_011520523.1:p.Ile917=
XM_011522221.3:c.2751C>T	XP_011520523.1:p.Ile917=
XM_011522222.1:c.2751C>T	XP_011520524.1:p.Ile917=
XM_011522222.3:c.2751C>T	XP_011520524.1:p.Ile917=
XM_011522223.1:c.2697C>T	XP_011520525.1:p.Ile899=
XM_011522225.1:c.2751C>T	XP_011520527.1:p.Ile917=
XM_017022724.2:c.2751C>T	XP_016878213.1:p.Ile917=
XM_017022725.2:c.2751C>T	XP_016878214.1:p.Ile917=
XM_024450103.1:c.2751C>T	XP_024305871.1:p.Ile917=
XM_024450104.1:c.2751C>T	XP_024305872.1:p.Ile917=
XM_024450105.1:c.2751C>T	XP_024305873.1:p.Ile917=
XM_024450106.1:c.2697C>T	XP_024305874.1:p.Ile899=