Canonical Allele Identifier: CA2645199364

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42943178-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943178C>A , CM000663.2:g.42943178C>A	GRCh38
NC_000001.10:g.43408849C>A , CM000663.1:g.43408849C>A	GRCh37
NC_000001.9:g.43181436C>A	NCBI36
NG_008232.1:g.20999G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.114+48G>T MANE Select	ENSP00000416293.2:n.114+48G>T
ENST00000674765.1:c.114+48G>T	ENSP00000501811.1:n.114+48G>T
ENST00000675112.1:n.137+48G>T
ENST00000372500.4:c.19-11972G>T	ENSP00000361578.4:n.19-11972G>T
ENST00000415851.6:n.331+48G>T
ENST00000426263.7:c.114+48G>T	ENSP00000416293.2:n.114+48G>T
ENST00000475162.3:c.13+48G>T
ENST00000625233.2:n.322+48G>T
ENST00000628173.1:n.333+48G>T
ENST00000630287.2:c.114+48G>T	ENSP00000486694.1:n.114+48G>T
ENST00000630821.1:n.379G>T
NM_006516.2:c.114+48G>T	NP_006507.2:n.114+48G>T
NM_006516.3:c.114+48G>T	NP_006507.2:n.114+48G>T
NM_006516.4:c.114+48G>T MANE Select	NP_006507.2:n.114+48G>T