Canonical Allele Identifier: CA803426

Gene: SLC2A1

Linked Data

• dbSNP Id: rs769722072
• ExAC: 1:43395144 C / G
• gnomAD v2: 1-43395144-C-G
• gnomAD v4: 1-42929473-C-G
• MyVariant Identifiers: chr1:g.43395144C>G (hg19) ; chr1:g.42929473C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929473C>G , CM000663.2:g.42929473C>G	GRCh38
NC_000001.10:g.43395144C>G , CM000663.1:g.43395144C>G	GRCh37
NC_000001.9:g.43167731C>G	NCBI36
NG_008232.1:g.34704G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.867+120G>C MANE Select	ENSP00000416293.2:n.867+120G>C
ENST00000674545.1:n.27G>C
ENST00000674765.1:c.867+120G>C	ENSP00000501811.1:n.867+120G>C
ENST00000675112.1:n.1010G>C
ENST00000676254.1:n.1316+120G>C
ENST00000426263.7:c.867+120G>C	ENSP00000416293.2:n.867+120G>C
ENST00000439722.2:c.746+120G>C	ENSP00000395521.2:n.746+120G>C
ENST00000475162.3:c.415+1153G>C
ENST00000630287.2:c.*182+120G>C	ENSP00000486694.1:n.*182+120G>C
NM_006516.2:c.867+120G>C	NP_006507.2:n.867+120G>C
NM_006516.3:c.867+120G>C	NP_006507.2:n.867+120G>C
NM_006516.4:c.867+120G>C MANE Select	NP_006507.2:n.867+120G>C