Canonical Allele Identifier: CA151364

Gene: SLC5A1

Linked Data

• ClinVar Variation Id: 127077
• ClinVar RCV Id: RCV000114940 ; RCV000726922
• dbSNP Id: rs201799893
• ExAC: 22:32500780 G / A
• gnomAD v2: 22-32500780-G-A
• gnomAD v3: 22-32104793-G-A
• gnomAD v4: 22-32104793-G-A
• COSMIC: COSM1535237
• MyVariant Identifiers: chr22:g.32500780G>A (hg19) ; chr22:g.32104793G>A (hg38)
• PubMed: PMID:20486940

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104793G>A , CM000684.2:g.32104793G>A	GRCh38
NC_000022.10:g.32500780G>A , CM000684.1:g.32500780G>A	GRCh37
NC_000022.9:g.30830780G>A	NCBI36
NG_017045.1:g.66762G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1673G>A MANE Select	ENSP00000266088.4:p.Arg558His
ENST00000266088.8:c.1673G>A	ENSP00000266088.4:p.Arg558His
ENST00000543737.2:c.1292G>A	ENSP00000444898.1:p.Arg431His
NM_000343.3:c.1673G>A	NP_000334.1:p.Arg558His
NM_001256314.1:c.1292G>A	NP_001243243.1:p.Arg431His
XR_938173.1:n.591+2045C>T
XR_938174.1:n.486+15062C>T
NM_000343.4:c.1673G>A MANE Select	NP_000334.1:p.Arg558His
NM_001256314.2:c.1292G>A	NP_001243243.1:p.Arg431His