Canonical Allele Identifier: CA339952392

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927070G>A , CM000663.2:g.42927070G>A	GRCh38
NC_000001.10:g.43392741G>A , CM000663.1:g.43392741G>A	GRCh37
NC_000001.9:g.43165328G>A	NCBI36
NG_008232.1:g.37107C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006516.4:c.1450C>T MANE Select	NP_006507.2:p.His484Tyr
ENST00000426263.10:c.1450C>T MANE Select	ENSP00000416293.2:p.His484Tyr
NM_006516.2:c.1450C>T	NP_006507.2:p.His484Tyr
NM_006516.3:c.1450C>T	NP_006507.2:p.His484Tyr
ENST00000426263.7:c.1450C>T	ENSP00000416293.2:p.His484Tyr
ENST00000475162.3:c.416-92C>T
ENST00000630287.2:c.*765C>T	ENSP00000486694.1:n.*765C>T
ENST00000674545.1:n.2067C>T
ENST00000674765.1:c.1030-213C>T	ENSP00000501811.1:n.1030-213C>T
ENST00000675112.1:n.1751C>T
ENST00000676254.1:n.1899C>T