Canonical Allele Identifier: CA514276562
Gene: SLC5A1 HGNC NCBI

Linked Data

gnomAD v4: 22-32049963-T-G
MyVariant Identifiers: chr22:g.32445950T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32049963T>G , CM000684.2:g.32049963T>G GRCh38
NC_000022.10:g.32445950T>G , CM000684.1:g.32445950T>G GRCh37
NC_000022.9:g.30775950T>G NCBI36
NG_017045.1:g.11932T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000266088.9:c.156T>G MANE Select ENSP00000266088.4:p.Arg52=
ENST00000266088.8:c.156T>G ENSP00000266088.4:p.Arg52=
NM_000343.3:c.156T>G NP_000334.1:p.Arg52=
XM_011530331.1:c.156T>G XP_011528633.1:p.Arg52=
NM_000343.4:c.156T>G MANE Select NP_000334.1:p.Arg52=
Search 100 bp 5'
Search 100 bp 3'