Canonical Allele Identifier: CA803488

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929928G>C , CM000663.2:g.42929928G>C	GRCh38
NC_000001.10:g.43395599G>C , CM000663.1:g.43395599G>C	GRCh37
NC_000001.9:g.43168186G>C	NCBI36
NG_008232.1:g.34249C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006516.4:c.624C>G MANE Select	NP_006507.2:p.Pro208=
ENST00000426263.10:c.624C>G MANE Select	ENSP00000416293.2:p.Pro208=
NM_006516.2:c.624C>G	NP_006507.2:p.Pro208=
NM_006516.3:c.624C>G	NP_006507.2:p.Pro208=
ENST00000426263.7:c.624C>G	ENSP00000416293.2:p.Pro208=
ENST00000439722.2:c.503C>G	ENSP00000395521.2:n.503C>G
ENST00000475162.3:c.415+698C>G
ENST00000630287.2:c.517-148C>G	ENSP00000486694.1:n.517-148C>G
ENST00000669445.1:c.1C>G
ENST00000674765.1:c.624C>G	ENSP00000501811.1:p.Pro208=
ENST00000675112.1:n.647C>G
ENST00000676254.1:n.1073C>G