Canonical Allele Identifier: CA9886954

Gene: SLC12A5

Linked Data

• ClinVar Variation Id: 542322
• ClinVar RCV Id: RCV000652726 ; RCV001310463
• dbSNP Id: rs143969641
• ExAC: 20:44663630 C / T
• gnomAD v2: 20-44663630-C-T
• gnomAD v3: 20-46034991-C-T
• gnomAD v4: 20-46034991-C-T
• MyVariant Identifiers: chr20:g.44663630C>T (hg19) ; chr20:g.46034991C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46034991C>T , CM000682.2:g.46034991C>T	GRCh38
NC_000020.10:g.44663630C>T , CM000682.1:g.44663630C>T	GRCh37
NC_000020.9:g.44097037C>T	NCBI36
NG_046341.1:g.18302C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.96C>T MANE Select	ENSP00000243964.4:p.Thr32=
ENST00000243964.6:c.96C>T	ENSP00000243964.3:p.Thr32=
ENST00000372315.4:n.245C>T
ENST00000454036.6:c.165C>T	ENSP00000387694.1:p.Thr55=
ENST00000539566.3:c.96C>T	ENSP00000446091.1:p.Thr32=
ENST00000608944.5:c.-37C>T	ENSP00000476885.2:n.-37C>T
ENST00000616201.4:c.96C>T	ENSP00000484585.1:p.Thr32=
ENST00000616202.4:c.96C>T	ENSP00000478369.1:p.Thr32=
ENST00000616933.4:c.96C>T	ENSP00000477569.1:p.Thr32=
ENST00000622711.4:n.259C>T
ENST00000625683.2:n.259C>T
ENST00000626937.2:c.96C>T	ENSP00000485953.1:p.Thr32=
ENST00000627290.2:c.96C>T	ENSP00000487449.1:p.Thr32=
ENST00000629054.2:n.259C>T
NM_001134771.1:c.165C>T	NP_001128243.1:p.Thr55=
NM_020708.4:c.96C>T	NP_065759.1:p.Thr32=
XM_017027981.1:c.165C>T	XP_016883470.1:p.Thr55=
NM_001134771.2:c.165C>T	NP_001128243.1:p.Thr55=
NM_020708.5:c.96C>T MANE Select	NP_065759.1:p.Thr32=