Canonical Allele Identifier: CA522805076

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1204614756
• gnomAD v2: 1-43395015-A-G
• gnomAD v4: 1-42929344-A-G
• MyVariant Identifiers: chr1:g.43395015A>G (hg19) ; chr1:g.42929344A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929344A>G , CM000663.2:g.42929344A>G	GRCh38
NC_000001.10:g.43395015A>G , CM000663.1:g.43395015A>G	GRCh37
NC_000001.9:g.43167602A>G	NCBI36
NG_008232.1:g.34833T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.868-30T>C MANE Select	ENSP00000416293.2:n.868-30T>C
ENST00000674545.1:n.156T>C
ENST00000674765.1:c.868-30T>C	ENSP00000501811.1:n.868-30T>C
ENST00000675112.1:n.1139T>C
ENST00000676254.1:n.1317-30T>C
ENST00000426263.7:c.868-30T>C	ENSP00000416293.2:n.868-30T>C
ENST00000439722.2:c.747-30T>C	ENSP00000395521.2:n.747-30T>C
ENST00000475162.3:c.415+1282T>C
ENST00000630287.2:c.*183-30T>C	ENSP00000486694.1:n.*183-30T>C
NM_006516.2:c.868-30T>C	NP_006507.2:n.868-30T>C
NM_006516.3:c.868-30T>C	NP_006507.2:n.868-30T>C
NM_006516.4:c.868-30T>C MANE Select	NP_006507.2:n.868-30T>C