Canonical Allele Identifier: CA514277441
Gene: SLC5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 899619
ClinVar RCV Id: RCV001144293
dbSNP Id: rs1475148938
gnomAD v2: 22-32500823-C-T
gnomAD v3: 22-32104836-C-T
gnomAD v4: 22-32104836-C-T
MyVariant Identifiers: chr22:g.32500823C>T (hg19) chr22:g.32104836C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104836C>T , CM000684.2:g.32104836C>T GRCh38
NC_000022.10:g.32500823C>T , CM000684.1:g.32500823C>T GRCh37
NC_000022.9:g.30830823C>T NCBI36
NG_017045.1:g.66805C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1716C>T MANE Select ENSP00000266088.4:p.Asp572=
ENST00000266088.8:c.1716C>T ENSP00000266088.4:p.Asp572=
ENST00000543737.2:c.1335C>T ENSP00000444898.1:p.Asp445=
NM_000343.3:c.1716C>T NP_000334.1:p.Asp572=
NM_001256314.1:c.1335C>T NP_001243243.1:p.Asp445=
XR_938173.1:n.591+2002G>A
XR_938174.1:n.486+15019G>A
NM_000343.4:c.1716C>T MANE Select NP_000334.1:p.Asp572=
NM_001256314.2:c.1335C>T NP_001243243.1:p.Asp445=
Search 100 bp 5'
Search 100 bp 3'