Canonical Allele Identifier: CA9887717
Gene: SLC12A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 445720
dbSNP Id: rs199934904

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46056202C>G , CM000682.2:g.46056202C>G GRCh38
NC_000020.10:g.44684841C>G , CM000682.1:g.44684841C>G GRCh37
NC_000020.9:g.44118248C>G NCBI36
NG_046341.1:g.39513C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000243964.7:c.2840C>G MANE Select ENSP00000243964.4:p.Ala947Gly
ENST00000243964.6:c.2840C>G ENSP00000243964.3:p.Ala947Gly
ENST00000454036.6:c.2909C>G ENSP00000387694.1:p.Ala970Gly
ENST00000616201.4:c.1298-2454C>G ENSP00000484585.1:n.1298-2454C>G
ENST00000616202.4:c.613-2279C>G ENSP00000478369.1:n.613-2279C>G
ENST00000616933.4:c.*2158C>G ENSP00000477569.1:n.*2158C>G
ENST00000626937.2:c.510-3397C>G ENSP00000485953.1:n.510-3397C>G
ENST00000628413.1:n.356C>G
NM_001134771.1:c.2909C>G NP_001128243.1:p.Ala970Gly
NM_020708.4:c.2840C>G NP_065759.1:p.Ala947Gly
XM_017027981.1:c.2909C>G XP_016883470.1:p.Ala970Gly
NM_001134771.2:c.2909C>G NP_001128243.1:p.Ala970Gly
NM_020708.5:c.2840C>G MANE Select NP_065759.1:p.Ala947Gly