Canonical Allele Identifier: CA411307834
Gene: SLC5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.32439353A>T (hg19) chr22:g.32043366A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32043366A>T , CM000684.2:g.32043366A>T GRCh38
NC_000022.10:g.32439353A>T , CM000684.1:g.32439353A>T GRCh37
NC_000022.9:g.30769353A>T NCBI36
NG_017045.1:g.5335A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000266088.9:c.85A>T MANE Select ENSP00000266088.4:p.Ile29Phe
ENST00000266088.8:c.85A>T ENSP00000266088.4:p.Ile29Phe
NM_000343.3:c.85A>T NP_000334.1:p.Ile29Phe
XM_011530331.1:c.85A>T XP_011528633.1:p.Ile29Phe
NM_000343.4:c.85A>T MANE Select NP_000334.1:p.Ile29Phe
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