Canonical Allele Identifier: CA514275810
Gene: SLC5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.32439361C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32043374C>T , CM000684.2:g.32043374C>T GRCh38
NC_000022.10:g.32439361C>T , CM000684.1:g.32439361C>T GRCh37
NC_000022.9:g.30769361C>T NCBI36
NG_017045.1:g.5343C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000266088.9:c.93C>T MANE Select ENSP00000266088.4:p.Ile31=
ENST00000266088.8:c.93C>T ENSP00000266088.4:p.Ile31=
NM_000343.3:c.93C>T NP_000334.1:p.Ile31=
XM_011530331.1:c.93C>T XP_011528633.1:p.Ile31=
NM_000343.4:c.93C>T MANE Select NP_000334.1:p.Ile31=