Canonical Allele Identifier: CA2366499479

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056152C= , CM000682.2:g.46056152C=	GRCh38
NC_000020.10:g.44684791C= , CM000682.1:g.44684791C=	GRCh37
NC_000020.9:g.44118198C=	NCBI36
NG_046341.1:g.39463C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2790C= MANE Select	ENSP00000243964.4:p.Ile930=
ENST00000243964.6:c.2790C=	ENSP00000243964.3:p.Ile930=
ENST00000454036.6:c.2859C=	ENSP00000387694.1:p.Ile953=
ENST00000616201.4:c.1298-2504C=	ENSP00000484585.1:n.1298-2504C=
ENST00000616202.4:c.613-2329C=	ENSP00000478369.1:n.613-2329C=
ENST00000616933.4:c.*2108C=	ENSP00000477569.1:n.*2108C=
ENST00000626937.2:c.510-3447C=	ENSP00000485953.1:n.510-3447C=
ENST00000628413.1:n.306C=
NM_001134771.1:c.2859C=	NP_001128243.1:p.Ile953=
NM_020708.4:c.2790C=	NP_065759.1:p.Ile930=
XM_017027981.1:c.2859C=	XP_016883470.1:p.Ile953=
NM_001134771.2:c.2859C=	NP_001128243.1:p.Ile953=
NM_020708.5:c.2790C= MANE Select	NP_065759.1:p.Ile930=