Canonical Allele Identifier: CA10198304
Gene: SLC5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1420608
ClinVar RCV Id: RCV001914403
dbSNP Id: rs185883847
ExAC: 22:32500831 C / T
gnomAD v2: 22-32500831-C-T
gnomAD v3: 22-32104844-C-T
gnomAD v4: 22-32104844-C-T
COSMIC: COSM1226479
MyVariant Identifiers: chr22:g.32500831C>T (hg19) chr22:g.32104844C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104844C>T , CM000684.2:g.32104844C>T GRCh38
NC_000022.10:g.32500831C>T , CM000684.1:g.32500831C>T GRCh37
NC_000022.9:g.30830831C>T NCBI36
NG_017045.1:g.66813C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1724C>T MANE Select ENSP00000266088.4:p.Ala575Val
ENST00000266088.8:c.1724C>T ENSP00000266088.4:p.Ala575Val
ENST00000543737.2:c.1343C>T ENSP00000444898.1:p.Ala448Val
NM_000343.3:c.1724C>T NP_000334.1:p.Ala575Val
NM_001256314.1:c.1343C>T NP_001243243.1:p.Ala448Val
XR_938173.1:n.591+1994G>A
XR_938174.1:n.486+15011G>A
NM_000343.4:c.1724C>T MANE Select NP_000334.1:p.Ala575Val
NM_001256314.2:c.1343C>T NP_001243243.1:p.Ala448Val
Search 100 bp 5'
Search 100 bp 3'