Canonical Allele Identifier: CA21249978

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42928701G>C , CM000663.2:g.42928701G>C	GRCh38
NC_000001.10:g.43394372G>C , CM000663.1:g.43394372G>C	GRCh37
NC_000001.9:g.43166959G>C	NCBI36
NG_008232.1:g.35476C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006516.4:c.1074+231C>G MANE Select	NP_006507.2:n.1074+231C>G
ENST00000426263.10:c.1074+231C>G MANE Select	ENSP00000416293.2:n.1074+231C>G
NM_006516.2:c.1074+231C>G	NP_006507.2:n.1074+231C>G
NM_006516.3:c.1074+231C>G	NP_006507.2:n.1074+231C>G
ENST00000426263.7:c.1074+231C>G	ENSP00000416293.2:n.1074+231C>G
ENST00000475162.3:c.416-1723C>G
ENST00000630287.2:c.*389+231C>G	ENSP00000486694.1:n.*389+231C>G
ENST00000674545.1:n.799C>G
ENST00000674765.1:c.1029+276C>G	ENSP00000501811.1:n.1029+276C>G
ENST00000675112.1:n.1375+231C>G
ENST00000676254.1:n.1523+231C>G