Canonical Allele Identifier: CA21256381

Gene: SLC2A1

Linked Data

• dbSNP Id: rs945305122
• gnomAD v3: 1-42936946-G-A
• gnomAD v4: 1-42936946-G-A
• MyVariant Identifiers: chr1:g.43402617G>A (hg19) ; chr1:g.42936946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42936946G>A , CM000663.2:g.42936946G>A	GRCh38
NC_000001.10:g.43402617G>A , CM000663.1:g.43402617G>A	GRCh37
NC_000001.9:g.43175204G>A	NCBI36
NG_008232.1:g.27231C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.115-5740C>T MANE Select	ENSP00000416293.2:n.115-5740C>T
ENST00000674765.1:c.115-5740C>T	ENSP00000501811.1:n.115-5740C>T
ENST00000675112.1:n.138-5740C>T
ENST00000372500.4:c.19-5740C>T	ENSP00000361578.4:n.19-5740C>T
ENST00000415851.6:n.332-5740C>T
ENST00000426263.7:c.115-5740C>T	ENSP00000416293.2:n.115-5740C>T
ENST00000475162.3:c.14-5740C>T
ENST00000625233.2:n.323-5740C>T
ENST00000628173.1:n.460+2877C>T
ENST00000630287.2:c.115-5740C>T	ENSP00000486694.1:n.115-5740C>T
NM_006516.2:c.115-5740C>T	NP_006507.2:n.115-5740C>T
NM_006516.3:c.115-5740C>T	NP_006507.2:n.115-5740C>T
NM_006516.4:c.115-5740C>T MANE Select	NP_006507.2:n.115-5740C>T