Canonical Allele Identifier: CA417412052

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1385129
• gnomAD v2: 1-43408966-G-C
• gnomAD v4: 1-42943295-G-C
• MyVariant Identifiers: chr1:g.43408966G>C (hg19) ; chr1:g.42943295G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943295G>C , CM000663.2:g.42943295G>C	GRCh38
NC_000001.10:g.43408966G>C , CM000663.1:g.43408966G>C	GRCh37
NC_000001.9:g.43181553G>C	NCBI36
NG_008232.1:g.20882C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.45C>G MANE Select	ENSP00000416293.2:p.Ala15=
ENST00000674765.1:c.45C>G	ENSP00000501811.1:p.Ala15=
ENST00000675112.1:n.68C>G
ENST00000372500.4:c.19-12089C>G	ENSP00000361578.4:n.19-12089C>G
ENST00000415851.6:n.262C>G
ENST00000426263.7:c.45C>G	ENSP00000416293.2:p.Ala15=
ENST00000625233.2:n.253C>G
ENST00000628173.1:n.264C>G
ENST00000630287.2:c.45C>G	ENSP00000486694.1:p.Ala15=
ENST00000630821.1:n.262C>G
NM_006516.2:c.45C>G	NP_006507.2:p.Ala15=
NM_006516.3:c.45C>G	NP_006507.2:p.Ala15=
NM_006516.4:c.45C>G MANE Select	NP_006507.2:p.Ala15=