Canonical Allele Identifier: CA411309221
Gene: SLC5A1 HGNC NCBI

Linked Data

COSMIC: COSM1288042
MyVariant Identifiers: chr22:g.32445966T>C (hg19) chr22:g.32049979T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32049979T>C , CM000684.2:g.32049979T>C GRCh38
NC_000022.10:g.32445966T>C , CM000684.1:g.32445966T>C GRCh37
NC_000022.9:g.30775966T>C NCBI36
NG_017045.1:g.11948T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.172T>C MANE Select ENSP00000266088.4:p.Phe58Leu
ENST00000266088.8:c.172T>C ENSP00000266088.4:p.Phe58Leu
NM_000343.3:c.172T>C NP_000334.1:p.Phe58Leu
XM_011530331.1:c.172T>C XP_011528633.1:p.Phe58Leu
NM_000343.4:c.172T>C MANE Select NP_000334.1:p.Phe58Leu
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