Canonical Allele Identifier: CA803494

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929964C>G , CM000663.2:g.42929964C>G	GRCh38
NC_000001.10:g.43395635C>G , CM000663.1:g.43395635C>G	GRCh37
NC_000001.9:g.43168222C>G	NCBI36
NG_008232.1:g.34213G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006516.4:c.588G>C MANE Select	NP_006507.2:p.Pro196=
ENST00000426263.10:c.588G>C MANE Select	ENSP00000416293.2:p.Pro196=
NM_006516.2:c.588G>C	NP_006507.2:p.Pro196=
NM_006516.3:c.588G>C	NP_006507.2:p.Pro196=
ENST00000426263.7:c.588G>C	ENSP00000416293.2:p.Pro196=
ENST00000439722.2:c.467G>C	ENSP00000395521.2:n.467G>C
ENST00000475162.3:c.415+662G>C
ENST00000630287.2:c.517-184G>C	ENSP00000486694.1:n.517-184G>C
ENST00000674765.1:c.588G>C	ENSP00000501811.1:p.Pro196=
ENST00000675112.1:n.611G>C
ENST00000676254.1:n.1037G>C