Canonical Allele Identifier: CA2366499642

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056551T= , CM000682.2:g.46056551T=	GRCh38
NC_000020.10:g.44685190T= , CM000682.1:g.44685190T=	GRCh37
NC_000020.9:g.44118597T=	NCBI36
NG_046341.1:g.39862T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3097T= MANE Select	ENSP00000243964.4:p.Phe1033=
ENST00000243964.6:c.3097T=	ENSP00000243964.3:p.Phe1033=
ENST00000454036.6:c.3166T=	ENSP00000387694.1:p.Phe1056=
ENST00000616201.4:c.1298-2105T=	ENSP00000484585.1:n.1298-2105T=
ENST00000616202.4:c.613-1930T=	ENSP00000478369.1:n.613-1930T=
ENST00000616933.4:c.*2415T=	ENSP00000477569.1:n.*2415T=
ENST00000626937.2:c.510-3048T=	ENSP00000485953.1:n.510-3048T=
NM_001134771.1:c.3166T=	NP_001128243.1:p.Phe1056=
NM_020708.4:c.3097T=	NP_065759.1:p.Phe1033=
XM_017027981.1:c.3166T=	XP_016883470.1:p.Phe1056=
NM_001134771.2:c.3166T=	NP_001128243.1:p.Phe1056=
NM_020708.5:c.3097T= MANE Select	NP_065759.1:p.Phe1033=