Canonical Allele Identifier: CA1001056234

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643614317
• gnomAD v3: 1-42943082-G-C
• gnomAD v4: 1-42943082-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943082G>C , CM000663.2:g.42943082G>C	GRCh38
NC_000001.10:g.43408753G>C , CM000663.1:g.43408753G>C	GRCh37
NC_000001.9:g.43181340G>C	NCBI36
NG_008232.1:g.21095C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.114+144C>G MANE Select	ENSP00000416293.2:n.114+144C>G
ENST00000674765.1:c.114+144C>G	ENSP00000501811.1:n.114+144C>G
ENST00000675112.1:n.137+144C>G
ENST00000372500.4:c.19-11876C>G	ENSP00000361578.4:n.19-11876C>G
ENST00000415851.6:n.331+144C>G
ENST00000426263.7:c.114+144C>G	ENSP00000416293.2:n.114+144C>G
ENST00000475162.3:c.13+144C>G
ENST00000625233.2:n.322+144C>G
ENST00000628173.1:n.333+144C>G
ENST00000630287.2:c.114+144C>G	ENSP00000486694.1:n.114+144C>G
ENST00000630821.1:n.475C>G
NM_006516.2:c.114+144C>G	NP_006507.2:n.114+144C>G
NM_006516.3:c.114+144C>G	NP_006507.2:n.114+144C>G
NM_006516.4:c.114+144C>G MANE Select	NP_006507.2:n.114+144C>G