Canonical Allele Identifier: CA417543449

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42929764-G-C
• MyVariant Identifiers: chr1:g.43395435G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929764G>C , CM000663.2:g.42929764G>C	GRCh38
NC_000001.10:g.43395435G>C , CM000663.1:g.43395435G>C	GRCh37
NC_000001.9:g.43168022G>C	NCBI36
NG_008232.1:g.34413C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.696C>G MANE Select	ENSP00000416293.2:p.Arg232=
ENST00000669445.1:c.57-31C>G
ENST00000674765.1:c.696C>G	ENSP00000501811.1:p.Arg232=
ENST00000675112.1:n.719C>G
ENST00000676254.1:n.1145C>G
ENST00000426263.7:c.696C>G	ENSP00000416293.2:p.Arg232=
ENST00000439722.2:c.575C>G	ENSP00000395521.2:n.575C>G
ENST00000475162.3:c.415+862C>G
ENST00000630287.2:c.*11C>G	ENSP00000486694.1:n.*11C>G
NM_006516.2:c.696C>G	NP_006507.2:p.Arg232=
NM_006516.3:c.696C>G	NP_006507.2:p.Arg232=
NM_006516.4:c.696C>G MANE Select	NP_006507.2:p.Arg232=