Canonical Allele Identifier: CA10197804
Gene: SLC5A1 HGNC NCBI

Linked Data

dbSNP Id: rs766011434
ExAC: 22:32439255 G / A
gnomAD v2: 22-32439255-G-A
gnomAD v4: 22-32043268-G-A
MyVariant Identifiers: chr22:g.32439255G>A (hg19) chr22:g.32043268G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32043268G>A , CM000684.2:g.32043268G>A GRCh38
NC_000022.10:g.32439255G>A , CM000684.1:g.32439255G>A GRCh37
NC_000022.9:g.30769255G>A NCBI36
NG_017045.1:g.5237G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000266088.9:c.-14G>A MANE Select ENSP00000266088.4:n.-14G>A
ENST00000266088.8:c.-14G>A ENSP00000266088.4:n.-14G>A
NM_000343.3:c.-14G>A NP_000334.1:n.-14G>A
XM_011530331.1:c.-14G>A XP_011528633.1:n.-14G>A
NM_000343.4:c.-14G>A MANE Select NP_000334.1:n.-14G>A
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