Canonical Allele Identifier: CA411309334
Gene: SLC5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1946284
ClinVar RCV Id: RCV002658790
dbSNP Id: rs1460424935
gnomAD v2: 22-32445990-G-A
gnomAD v4: 22-32050003-G-A
MyVariant Identifiers: chr22:g.32445990G>A (hg19) chr22:g.32050003G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32050003G>A , CM000684.2:g.32050003G>A GRCh38
NC_000022.10:g.32445990G>A , CM000684.1:g.32445990G>A GRCh37
NC_000022.9:g.30775990G>A NCBI36
NG_017045.1:g.11972G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.196G>A MANE Select ENSP00000266088.4:p.Val66Met
ENST00000266088.8:c.196G>A ENSP00000266088.4:p.Val66Met
NM_000343.3:c.196G>A NP_000334.1:p.Val66Met
XM_011530331.1:c.196G>A XP_011528633.1:p.Val66Met
NM_000343.4:c.196G>A MANE Select NP_000334.1:p.Val66Met
Search 100 bp 5'
Search 100 bp 3'