Canonical Allele Identifier: CA417544176
Gene: SLC2A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.43396534C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930863C>G , CM000663.2:g.42930863C>G GRCh38
NC_000001.10:g.43396534C>G , CM000663.1:g.43396534C>G GRCh37
NC_000001.9:g.43169121C>G NCBI36
NG_008232.1:g.33314G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.279G>C MANE Select ENSP00000416293.2:p.Arg93=
ENST00000674765.1:c.279G>C ENSP00000501811.1:p.Arg93=
ENST00000675112.1:n.302G>C
ENST00000676254.1:n.728G>C
ENST00000372500.4:c.183G>C ENSP00000361578.4:p.Arg61=
ENST00000426263.7:c.279G>C ENSP00000416293.2:p.Arg93=
ENST00000439722.2:c.158G>C ENSP00000395521.2:n.158G>C
ENST00000475162.3:c.178G>C
ENST00000625233.2:n.487G>C
ENST00000630287.2:c.279G>C ENSP00000486694.1:p.Arg93=
NM_006516.2:c.279G>C NP_006507.2:p.Arg93=
NM_006516.3:c.279G>C NP_006507.2:p.Arg93=
NM_006516.4:c.279G>C MANE Select NP_006507.2:p.Arg93=