Canonical Allele Identifier: CA2656281222
Gene: SLC5A1 HGNC NCBI

Linked Data

gnomAD v4: 22-32049796-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32049796T>C , CM000684.2:g.32049796T>C GRCh38
NC_000022.10:g.32445783T>C , CM000684.1:g.32445783T>C GRCh37
NC_000022.9:g.30775783T>C NCBI36
NG_017045.1:g.11765T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.136-147T>C MANE Select ENSP00000266088.4:n.136-147T>C
ENST00000266088.8:c.136-147T>C ENSP00000266088.4:n.136-147T>C
NM_000343.3:c.136-147T>C NP_000334.1:n.136-147T>C
XM_011530331.1:c.136-147T>C XP_011528633.1:n.136-147T>C
NM_000343.4:c.136-147T>C MANE Select NP_000334.1:n.136-147T>C
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