Canonical Allele Identifier: CA2366499580

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056389G= , CM000682.2:g.46056389G=	GRCh38
NC_000020.10:g.44685028G= , CM000682.1:g.44685028G=	GRCh37
NC_000020.9:g.44118435G=	NCBI36
NG_046341.1:g.39700G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2935G= MANE Select	ENSP00000243964.4:p.Ala979=
ENST00000243964.6:c.2935G=	ENSP00000243964.3:p.Ala979=
ENST00000454036.6:c.3004G=	ENSP00000387694.1:p.Ala1002=
ENST00000616201.4:c.1298-2267G=	ENSP00000484585.1:n.1298-2267G=
ENST00000616202.4:c.613-2092G=	ENSP00000478369.1:n.613-2092G=
ENST00000616933.4:c.*2253G=	ENSP00000477569.1:n.*2253G=
ENST00000626937.2:c.510-3210G=	ENSP00000485953.1:n.510-3210G=
ENST00000628413.1:n.451G=
NM_001134771.1:c.3004G=	NP_001128243.1:p.Ala1002=
NM_020708.4:c.2935G=	NP_065759.1:p.Ala979=
XM_017027981.1:c.3004G=	XP_016883470.1:p.Ala1002=
NM_001134771.2:c.3004G=	NP_001128243.1:p.Ala1002=
NM_020708.5:c.2935G= MANE Select	NP_065759.1:p.Ala979=