Canonical Allele Identifier: CA2366493747

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46043294T= , CM000682.2:g.46043294T=	GRCh38
NC_000020.10:g.44671933T= , CM000682.1:g.44671933T=	GRCh37
NC_000020.9:g.44105340T=	NCBI36
NG_046341.1:g.26605T=

Transcript Alleles

HGVS	Amino-acid Change
NM_020708.5:c.1208T= MANE Select	NP_065759.1:p.Leu403=
ENST00000243964.7:c.1208T= MANE Select	ENSP00000243964.4:p.Leu403=
NM_001134771.1:c.1277T=	NP_001128243.1:p.Leu426=
NM_001134771.2:c.1277T=	NP_001128243.1:p.Leu426=
NM_020708.4:c.1208T=	NP_065759.1:p.Leu403=
ENST00000243964.6:c.1208T=	ENSP00000243964.3:p.Leu403=
ENST00000454036.6:c.1277T=	ENSP00000387694.1:p.Leu426=
ENST00000539566.3:c.510-2584T=	ENSP00000446091.1:n.510-2584T=
ENST00000608594.2:n.102T=
ENST00000616201.4:c.1208T=	ENSP00000484585.1:p.Leu403=
ENST00000616202.4:c.612+5909T=	ENSP00000478369.1:n.612+5909T=
ENST00000616933.4:c.*526T=	ENSP00000477569.1:n.*526T=
ENST00000626937.2:c.509+6012T=	ENSP00000485953.1:n.509+6012T=
XM_017027981.1:c.1277T=	XP_016883470.1:p.Leu426=