Canonical Allele Identifier: CA2743369588

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929794A>G , CM000663.2:g.42929794A>G	GRCh38
NC_000001.10:g.43395465A>G , CM000663.1:g.43395465A>G	GRCh37
NC_000001.9:g.43168052A>G	NCBI36
NG_008232.1:g.34383T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.680-14T>C MANE Select	ENSP00000416293.2:n.680-14T>C
ENST00000669445.1:c.57-61T>C
ENST00000674765.1:c.680-14T>C	ENSP00000501811.1:n.680-14T>C
ENST00000675112.1:n.703-14T>C
ENST00000676254.1:n.1129-14T>C
ENST00000426263.7:c.680-14T>C	ENSP00000416293.2:n.680-14T>C
ENST00000439722.2:c.559-14T>C	ENSP00000395521.2:n.559-14T>C
ENST00000475162.3:c.415+832T>C
ENST00000630287.2:c.517-14T>C	ENSP00000486694.1:n.517-14T>C
NM_006516.2:c.680-14T>C	NP_006507.2:n.680-14T>C
NM_006516.3:c.680-14T>C	NP_006507.2:n.680-14T>C
NM_006516.4:c.680-14T>C MANE Select	NP_006507.2:n.680-14T>C