Canonical Allele Identifier: CA2366499643

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056555G= , CM000682.2:g.46056555G=	GRCh38
NC_000020.10:g.44685194G= , CM000682.1:g.44685194G=	GRCh37
NC_000020.9:g.44118601G=	NCBI36
NG_046341.1:g.39866G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3101G= MANE Select	ENSP00000243964.4:p.Ser1034=
ENST00000243964.6:c.3101G=	ENSP00000243964.3:p.Ser1034=
ENST00000454036.6:c.3170G=	ENSP00000387694.1:p.Ser1057=
ENST00000616201.4:c.1298-2101G=	ENSP00000484585.1:n.1298-2101G=
ENST00000616202.4:c.613-1926G=	ENSP00000478369.1:n.613-1926G=
ENST00000616933.4:c.*2419G=	ENSP00000477569.1:n.*2419G=
ENST00000626937.2:c.510-3044G=	ENSP00000485953.1:n.510-3044G=
NM_001134771.1:c.3170G=	NP_001128243.1:p.Ser1057=
NM_020708.4:c.3101G=	NP_065759.1:p.Ser1034=
XM_017027981.1:c.3170G=	XP_016883470.1:p.Ser1057=
NM_001134771.2:c.3170G=	NP_001128243.1:p.Ser1057=
NM_020708.5:c.3101G= MANE Select	NP_065759.1:p.Ser1034=