Canonical Allele Identifier: CA2366499641

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056550C= , CM000682.2:g.46056550C=	GRCh38
NC_000020.10:g.44685189C= , CM000682.1:g.44685189C=	GRCh37
NC_000020.9:g.44118596C=	NCBI36
NG_046341.1:g.39861C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3096C= MANE Select	ENSP00000243964.4:p.Phe1032=
ENST00000243964.6:c.3096C=	ENSP00000243964.3:p.Phe1032=
ENST00000454036.6:c.3165C=	ENSP00000387694.1:p.Phe1055=
ENST00000616201.4:c.1298-2106C=	ENSP00000484585.1:n.1298-2106C=
ENST00000616202.4:c.613-1931C=	ENSP00000478369.1:n.613-1931C=
ENST00000616933.4:c.*2414C=	ENSP00000477569.1:n.*2414C=
ENST00000626937.2:c.510-3049C=	ENSP00000485953.1:n.510-3049C=
NM_001134771.1:c.3165C=	NP_001128243.1:p.Phe1055=
NM_020708.4:c.3096C=	NP_065759.1:p.Phe1032=
XM_017027981.1:c.3165C=	XP_016883470.1:p.Phe1055=
NM_001134771.2:c.3165C=	NP_001128243.1:p.Phe1055=
NM_020708.5:c.3096C= MANE Select	NP_065759.1:p.Phe1032=