Canonical Allele Identifier: CA417409122

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42929273-C-G
• MyVariant Identifiers: chr1:g.43394944C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929273C>G , CM000663.2:g.42929273C>G	GRCh38
NC_000001.10:g.43394944C>G , CM000663.1:g.43394944C>G	GRCh37
NC_000001.9:g.43167531C>G	NCBI36
NG_008232.1:g.34904G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.909G>C MANE Select	ENSP00000416293.2:p.Val303=
ENST00000674545.1:n.227G>C
ENST00000674765.1:c.909G>C	ENSP00000501811.1:p.Val303=
ENST00000675112.1:n.1210G>C
ENST00000676254.1:n.1358G>C
ENST00000426263.7:c.909G>C	ENSP00000416293.2:p.Val303=
ENST00000439722.2:c.788G>C	ENSP00000395521.2:n.788G>C
ENST00000475162.3:c.415+1353G>C
ENST00000630287.2:c.*224G>C	ENSP00000486694.1:n.*224G>C
NM_006516.2:c.909G>C	NP_006507.2:p.Val303=
NM_006516.3:c.909G>C	NP_006507.2:p.Val303=
NM_006516.4:c.909G>C MANE Select	NP_006507.2:p.Val303=