Canonical Allele Identifier: CA411309235
Gene: SLC5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.32445969T>G (hg19) chr22:g.32049982T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32049982T>G , CM000684.2:g.32049982T>G GRCh38
NC_000022.10:g.32445969T>G , CM000684.1:g.32445969T>G GRCh37
NC_000022.9:g.30775969T>G NCBI36
NG_017045.1:g.11951T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.175T>G MANE Select ENSP00000266088.4:p.Phe59Val
ENST00000266088.8:c.175T>G ENSP00000266088.4:p.Phe59Val
NM_000343.3:c.175T>G NP_000334.1:p.Phe59Val
XM_011530331.1:c.175T>G XP_011528633.1:p.Phe59Val
NM_000343.4:c.175T>G MANE Select NP_000334.1:p.Phe59Val
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