Canonical Allele Identifier: CA417409518
Gene: SLC2A1 HGNC NCBI

Linked Data

dbSNP Id: rs1557646447
MyVariant Identifiers: chr1:g.43396312G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930641G>A , CM000663.2:g.42930641G>A GRCh38
NC_000001.10:g.43396312G>A , CM000663.1:g.43396312G>A GRCh37
NC_000001.9:g.43168899G>A NCBI36
NG_008232.1:g.33536C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.501C>T MANE Select ENSP00000416293.2:p.Gly167=
ENST00000674765.1:c.501C>T ENSP00000501811.1:p.Gly167=
ENST00000675112.1:n.524C>T
ENST00000676254.1:n.950C>T
ENST00000426263.7:c.501C>T ENSP00000416293.2:p.Gly167=
ENST00000439722.2:c.380C>T ENSP00000395521.2:n.380C>T
ENST00000475162.3:c.400C>T
ENST00000625233.2:n.709C>T
ENST00000630287.2:c.501C>T ENSP00000486694.1:p.Gly167=
NM_006516.2:c.501C>T NP_006507.2:p.Gly167=
NM_006516.3:c.501C>T NP_006507.2:p.Gly167=
NM_006516.4:c.501C>T MANE Select NP_006507.2:p.Gly167=