Canonical Allele Identifier: CA2366499530

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056270G= , CM000682.2:g.46056270G=	GRCh38
NC_000020.10:g.44684909G= , CM000682.1:g.44684909G=	GRCh37
NC_000020.9:g.44118316G=	NCBI36
NG_046341.1:g.39581G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2908G= MANE Select	ENSP00000243964.4:p.Glu970=
ENST00000243964.6:c.2908G=	ENSP00000243964.3:p.Glu970=
ENST00000454036.6:c.2977G=	ENSP00000387694.1:p.Glu993=
ENST00000616201.4:c.1298-2386G=	ENSP00000484585.1:n.1298-2386G=
ENST00000616202.4:c.613-2211G=	ENSP00000478369.1:n.613-2211G=
ENST00000616933.4:c.*2226G=	ENSP00000477569.1:n.*2226G=
ENST00000626937.2:c.510-3329G=	ENSP00000485953.1:n.510-3329G=
ENST00000628413.1:n.424G=
NM_001134771.1:c.2977G=	NP_001128243.1:p.Glu993=
NM_020708.4:c.2908G=	NP_065759.1:p.Glu970=
XM_017027981.1:c.2977G=	XP_016883470.1:p.Glu993=
NM_001134771.2:c.2977G=	NP_001128243.1:p.Glu993=
NM_020708.5:c.2908G= MANE Select	NP_065759.1:p.Glu970=