Canonical Allele Identifier: CA735975271

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1450451410
• gnomAD v3: 1-42936956-A-G
• gnomAD v4: 1-42936956-A-G
• MyVariant Identifiers: chr1:g.43402627A>G (hg19) ; chr1:g.42936956A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42936956A>G , CM000663.2:g.42936956A>G	GRCh38
NC_000001.10:g.43402627A>G , CM000663.1:g.43402627A>G	GRCh37
NC_000001.9:g.43175214A>G	NCBI36
NG_008232.1:g.27221T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.115-5750T>C MANE Select	ENSP00000416293.2:n.115-5750T>C
ENST00000674765.1:c.115-5750T>C	ENSP00000501811.1:n.115-5750T>C
ENST00000675112.1:n.138-5750T>C
ENST00000372500.4:c.19-5750T>C	ENSP00000361578.4:n.19-5750T>C
ENST00000415851.6:n.332-5750T>C
ENST00000426263.7:c.115-5750T>C	ENSP00000416293.2:n.115-5750T>C
ENST00000475162.3:c.14-5750T>C
ENST00000625233.2:n.323-5750T>C
ENST00000628173.1:n.460+2867T>C
ENST00000630287.2:c.115-5750T>C	ENSP00000486694.1:n.115-5750T>C
NM_006516.2:c.115-5750T>C	NP_006507.2:n.115-5750T>C
NM_006516.3:c.115-5750T>C	NP_006507.2:n.115-5750T>C
NM_006516.4:c.115-5750T>C MANE Select	NP_006507.2:n.115-5750T>C