Canonical Allele Identifier: CA214744
Gene: SLC12A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 218377
ClinVar RCV Id: RCV000202638 RCV000990308 RCV003937760 RCV002262796
dbSNP Id: rs142740233
ExAC: 20:44684856 G / A
gnomAD v2: 20-44684856-G-A
gnomAD v3: 20-46056217-G-A
gnomAD v4: 20-46056217-G-A
MyVariant Identifiers: chr20:g.44684856G>A (hg19) chr20:g.46056217G>A (hg38)
PubMed: PMID:24668262 PMID:24928908 PMID:27535533
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46056217G>A , CM000682.2:g.46056217G>A GRCh38
NC_000020.10:g.44684856G>A , CM000682.1:g.44684856G>A GRCh37
NC_000020.9:g.44118263G>A NCBI36
NG_046341.1:g.39528G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243964.7:c.2855G>A MANE Select ENSP00000243964.4:p.Arg952His
ENST00000243964.6:c.2855G>A ENSP00000243964.3:p.Arg952His
ENST00000454036.6:c.2924G>A ENSP00000387694.1:p.Arg975His
ENST00000616201.4:c.1298-2439G>A ENSP00000484585.1:n.1298-2439G>A
ENST00000616202.4:c.613-2264G>A ENSP00000478369.1:n.613-2264G>A
ENST00000616933.4:c.*2173G>A ENSP00000477569.1:n.*2173G>A
ENST00000626937.2:c.510-3382G>A ENSP00000485953.1:n.510-3382G>A
ENST00000628413.1:n.371G>A
NM_001134771.1:c.2924G>A NP_001128243.1:p.Arg975His
NM_020708.4:c.2855G>A NP_065759.1:p.Arg952His
XM_017027981.1:c.2924G>A XP_016883470.1:p.Arg975His
NM_001134771.2:c.2924G>A NP_001128243.1:p.Arg975His
NM_020708.5:c.2855G>A MANE Select NP_065759.1:p.Arg952His
Search 100 bp 5'
Search 100 bp 3'