Canonical Allele Identifier: CA522499347

Gene: SLC2A1

Linked Data

• dbSNP Id: rs745580526
• gnomAD v2: 1-43408879-C-G
• gnomAD v4: 1-42943208-C-G
• MyVariant Identifiers: chr1:g.43408879C>G (hg19) ; chr1:g.42943208C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943208C>G , CM000663.2:g.42943208C>G	GRCh38
NC_000001.10:g.43408879C>G , CM000663.1:g.43408879C>G	GRCh37
NC_000001.9:g.43181466C>G	NCBI36
NG_008232.1:g.20969G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.114+18G>C MANE Select	ENSP00000416293.2:n.114+18G>C
ENST00000674765.1:c.114+18G>C	ENSP00000501811.1:n.114+18G>C
ENST00000675112.1:n.137+18G>C
ENST00000372500.4:c.19-12002G>C	ENSP00000361578.4:n.19-12002G>C
ENST00000415851.6:n.331+18G>C
ENST00000426263.7:c.114+18G>C	ENSP00000416293.2:n.114+18G>C
ENST00000475162.3:c.13+18G>C
ENST00000625233.2:n.322+18G>C
ENST00000628173.1:n.333+18G>C
ENST00000630287.2:c.114+18G>C	ENSP00000486694.1:n.114+18G>C
ENST00000630821.1:n.349G>C
NM_006516.2:c.114+18G>C	NP_006507.2:n.114+18G>C
NM_006516.3:c.114+18G>C	NP_006507.2:n.114+18G>C
NM_006516.4:c.114+18G>C MANE Select	NP_006507.2:n.114+18G>C