Canonical Allele Identifier: CA417543873
Gene: SLC2A1 HGNC NCBI

Linked Data

gnomAD v4: 1-42930767-G-C
MyVariant Identifiers: chr1:g.43396438G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930767G>C , CM000663.2:g.42930767G>C GRCh38
NC_000001.10:g.43396438G>C , CM000663.1:g.43396438G>C GRCh37
NC_000001.9:g.43169025G>C NCBI36
NG_008232.1:g.33410C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.375C>G MANE Select ENSP00000416293.2:p.Gly125=
ENST00000674765.1:c.375C>G ENSP00000501811.1:p.Gly125=
ENST00000675112.1:n.398C>G
ENST00000676254.1:n.824C>G
ENST00000372500.4:c.279C>G ENSP00000361578.4:p.Gly93=
ENST00000426263.7:c.375C>G ENSP00000416293.2:p.Gly125=
ENST00000439722.2:c.254C>G ENSP00000395521.2:n.254C>G
ENST00000475162.3:c.274C>G
ENST00000625233.2:n.583C>G
ENST00000630287.2:c.375C>G ENSP00000486694.1:p.Gly125=
NM_006516.2:c.375C>G NP_006507.2:p.Gly125=
NM_006516.3:c.375C>G NP_006507.2:p.Gly125=
NM_006516.4:c.375C>G MANE Select NP_006507.2:p.Gly125=