Canonical Allele Identifier: CA411307861
Gene: SLC5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1376872330
gnomAD v4: 22-32043372-A-G
MyVariant Identifiers: chr22:g.32439359A>G (hg19) chr22:g.32043372A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32043372A>G , CM000684.2:g.32043372A>G GRCh38
NC_000022.10:g.32439359A>G , CM000684.1:g.32439359A>G GRCh37
NC_000022.9:g.30769359A>G NCBI36
NG_017045.1:g.5341A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000266088.9:c.91A>G MANE Select ENSP00000266088.4:p.Ile31Val
ENST00000266088.8:c.91A>G ENSP00000266088.4:p.Ile31Val
NM_000343.3:c.91A>G NP_000334.1:p.Ile31Val
XM_011530331.1:c.91A>G XP_011528633.1:p.Ile31Val
NM_000343.4:c.91A>G MANE Select NP_000334.1:p.Ile31Val
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