Canonical Allele Identifier: CA2366492861

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46041337T= , CM000682.2:g.46041337T=	GRCh38
NC_000020.10:g.44669976T= , CM000682.1:g.44669976T=	GRCh37
NC_000020.9:g.44103383T=	NCBI36
NG_046341.1:g.24648T=

Transcript Alleles

HGVS	Amino-acid Change
NM_020708.5:c.863T= MANE Select	NP_065759.1:p.Leu288=
ENST00000243964.7:c.863T= MANE Select	ENSP00000243964.4:p.Leu288=
NM_001134771.1:c.932T=	NP_001128243.1:p.Leu311=
NM_001134771.2:c.932T=	NP_001128243.1:p.Leu311=
NM_020708.4:c.863T=	NP_065759.1:p.Leu288=
ENST00000243964.6:c.863T=	ENSP00000243964.3:p.Leu288=
ENST00000454036.6:c.932T=	ENSP00000387694.1:p.Leu311=
ENST00000539566.3:c.509+4055T=	ENSP00000446091.1:n.509+4055T=
ENST00000616201.4:c.863T=	ENSP00000484585.1:p.Leu288=
ENST00000616202.4:c.612+3952T=	ENSP00000478369.1:n.612+3952T=
ENST00000616933.4:c.*181T=	ENSP00000477569.1:n.*181T=
ENST00000626937.2:c.509+4055T=	ENSP00000485953.1:n.509+4055T=
XM_017027981.1:c.932T=	XP_016883470.1:p.Leu311=