Canonical Allele Identifier: CA2366494933

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46045891G= , CM000682.2:g.46045891G=	GRCh38
NC_000020.10:g.44674530G= , CM000682.1:g.44674530G=	GRCh37
NC_000020.9:g.44107937G=	NCBI36
NG_046341.1:g.29202G=

Transcript Alleles

HGVS	Amino-acid Change
NM_020708.5:c.1583G= MANE Select	NP_065759.1:p.Gly528=
ENST00000243964.7:c.1583G= MANE Select	ENSP00000243964.4:p.Gly528=
NM_001134771.1:c.1652G=	NP_001128243.1:p.Gly551=
NM_001134771.2:c.1652G=	NP_001128243.1:p.Gly551=
NM_020708.4:c.1583G=	NP_065759.1:p.Gly528=
ENST00000243964.6:c.1583G=	ENSP00000243964.3:p.Gly528=
ENST00000454036.6:c.1652G=	ENSP00000387694.1:p.Gly551=
ENST00000539566.3:c.523G=	ENSP00000446091.1:p.Ala175=
ENST00000616201.4:c.1297+2199G=	ENSP00000484585.1:n.1297+2199G=
ENST00000616202.4:c.612+8506G=	ENSP00000478369.1:n.612+8506G=
ENST00000616933.4:c.*901G=	ENSP00000477569.1:n.*901G=
ENST00000626144.1:n.394G=
ENST00000626937.2:c.509+8609G=	ENSP00000485953.1:n.509+8609G=
XM_017027981.1:c.1652G=	XP_016883470.1:p.Gly551=