Canonical Allele Identifier: CA323383763
Gene: SLC5A1 HGNC NCBI

Linked Data

dbSNP Id: rs957976110
gnomAD v3: 22-32049816-G-A
gnomAD v4: 22-32049816-G-A
MyVariant Identifiers: chr22:g.32445803G>A (hg19) chr22:g.32049816G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32049816G>A , CM000684.2:g.32049816G>A GRCh38
NC_000022.10:g.32445803G>A , CM000684.1:g.32445803G>A GRCh37
NC_000022.9:g.30775803G>A NCBI36
NG_017045.1:g.11785G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.136-127G>A MANE Select ENSP00000266088.4:n.136-127G>A
ENST00000266088.8:c.136-127G>A ENSP00000266088.4:n.136-127G>A
NM_000343.3:c.136-127G>A NP_000334.1:n.136-127G>A
XM_011530331.1:c.136-127G>A XP_011528633.1:n.136-127G>A
NM_000343.4:c.136-127G>A MANE Select NP_000334.1:n.136-127G>A
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