Canonical Allele Identifier: CA417409028

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42929240-A-G
• MyVariant Identifiers: chr1:g.43394911A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929240A>G , CM000663.2:g.42929240A>G	GRCh38
NC_000001.10:g.43394911A>G , CM000663.1:g.43394911A>G	GRCh37
NC_000001.9:g.43167498A>G	NCBI36
NG_008232.1:g.34937T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.942T>C MANE Select	ENSP00000416293.2:p.Gly314=
ENST00000674545.1:n.260T>C
ENST00000674765.1:c.942T>C	ENSP00000501811.1:p.Gly314=
ENST00000675112.1:n.1243T>C
ENST00000676254.1:n.1391T>C
ENST00000426263.7:c.942T>C	ENSP00000416293.2:p.Gly314=
ENST00000439722.2:c.821T>C	ENSP00000395521.2:n.821T>C
ENST00000475162.3:c.415+1386T>C
ENST00000630287.2:c.*257T>C	ENSP00000486694.1:n.*257T>C
NM_006516.2:c.942T>C	NP_006507.2:p.Gly314=
NM_006516.3:c.942T>C	NP_006507.2:p.Gly314=
NM_006516.4:c.942T>C MANE Select	NP_006507.2:p.Gly314=