Canonical Allele Identifier: CA2366499528

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056268A= , CM000682.2:g.46056268A=	GRCh38
NC_000020.10:g.44684907A= , CM000682.1:g.44684907A=	GRCh37
NC_000020.9:g.44118314A=	NCBI36
NG_046341.1:g.39579A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2906A= MANE Select	ENSP00000243964.4:p.Glu969=
ENST00000243964.6:c.2906A=	ENSP00000243964.3:p.Glu969=
ENST00000454036.6:c.2975A=	ENSP00000387694.1:p.Glu992=
ENST00000616201.4:c.1298-2388A=	ENSP00000484585.1:n.1298-2388A=
ENST00000616202.4:c.613-2213A=	ENSP00000478369.1:n.613-2213A=
ENST00000616933.4:c.*2224A=	ENSP00000477569.1:n.*2224A=
ENST00000626937.2:c.510-3331A=	ENSP00000485953.1:n.510-3331A=
ENST00000628413.1:n.422A=
NM_001134771.1:c.2975A=	NP_001128243.1:p.Glu992=
NM_020708.4:c.2906A=	NP_065759.1:p.Glu969=
XM_017027981.1:c.2975A=	XP_016883470.1:p.Glu992=
NM_001134771.2:c.2975A=	NP_001128243.1:p.Glu992=
NM_020708.5:c.2906A= MANE Select	NP_065759.1:p.Glu969=