Canonical Allele Identifier: CA409208253
Gene: SLC12A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2101967
ClinVar RCV Id: RCV003026272
dbSNP Id: rs1385851381

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000243964.7:c.3096C>A MANE Select ENSP00000243964.4:p.Phe1032Leu
ENST00000243964.6:c.3096C>A ENSP00000243964.3:p.Phe1032Leu
ENST00000454036.6:c.3165C>A ENSP00000387694.1:p.Phe1055Leu
ENST00000616201.4:c.1298-2106C>A ENSP00000484585.1:n.1298-2106C>A
ENST00000616202.4:c.613-1931C>A ENSP00000478369.1:n.613-1931C>A
ENST00000616933.4:c.*2414C>A ENSP00000477569.1:n.*2414C>A
ENST00000626937.2:c.510-3049C>A ENSP00000485953.1:n.510-3049C>A
NM_001134771.1:c.3165C>A NP_001128243.1:p.Phe1055Leu
NM_020708.4:c.3096C>A NP_065759.1:p.Phe1032Leu
XM_017027981.1:c.3165C>A XP_016883470.1:p.Phe1055Leu
NM_001134771.2:c.3165C>A NP_001128243.1:p.Phe1055Leu
NM_020708.5:c.3096C>A MANE Select NP_065759.1:p.Phe1032Leu