Canonical Allele Identifier: CA2645199522

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930159-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930159T>A , CM000663.2:g.42930159T>A	GRCh38
NC_000001.10:g.43395830T>A , CM000663.1:g.43395830T>A	GRCh37
NC_000001.9:g.43168417T>A	NCBI36
NG_008232.1:g.34018A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.517-124A>T MANE Select	ENSP00000416293.2:n.517-124A>T
ENST00000674765.1:c.517-124A>T	ENSP00000501811.1:n.517-124A>T
ENST00000675112.1:n.540-124A>T
ENST00000676254.1:n.966-124A>T
ENST00000426263.7:c.517-124A>T	ENSP00000416293.2:n.517-124A>T
ENST00000439722.2:c.396-124A>T	ENSP00000395521.2:n.396-124A>T
ENST00000475162.3:c.415+467A>T
ENST00000630287.2:c.517-379A>T	ENSP00000486694.1:n.517-379A>T
NM_006516.2:c.517-124A>T	NP_006507.2:n.517-124A>T
NM_006516.3:c.517-124A>T	NP_006507.2:n.517-124A>T
NM_006516.4:c.517-124A>T MANE Select	NP_006507.2:n.517-124A>T