Canonical Allele Identifier: CA803629

Gene: SLC2A1

Linked Data

• dbSNP Id: rs778217607
• ExAC: 1:43408869 C / T
• gnomAD v2: 1-43408869-C-T
• gnomAD v4: 1-42943198-C-T
• MyVariant Identifiers: chr1:g.43408869C>T (hg19) ; chr1:g.42943198C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943198C>T , CM000663.2:g.42943198C>T	GRCh38
NC_000001.10:g.43408869C>T , CM000663.1:g.43408869C>T	GRCh37
NC_000001.9:g.43181456C>T	NCBI36
NG_008232.1:g.20979G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.114+28G>A MANE Select	ENSP00000416293.2:n.114+28G>A
ENST00000674765.1:c.114+28G>A	ENSP00000501811.1:n.114+28G>A
ENST00000675112.1:n.137+28G>A
ENST00000372500.4:c.19-11992G>A	ENSP00000361578.4:n.19-11992G>A
ENST00000415851.6:n.331+28G>A
ENST00000426263.7:c.114+28G>A	ENSP00000416293.2:n.114+28G>A
ENST00000475162.3:c.13+28G>A
ENST00000625233.2:n.322+28G>A
ENST00000628173.1:n.333+28G>A
ENST00000630287.2:c.114+28G>A	ENSP00000486694.1:n.114+28G>A
ENST00000630821.1:n.359G>A
NM_006516.2:c.114+28G>A	NP_006507.2:n.114+28G>A
NM_006516.3:c.114+28G>A	NP_006507.2:n.114+28G>A
NM_006516.4:c.114+28G>A MANE Select	NP_006507.2:n.114+28G>A