Canonical Allele Identifier: CA339961294
Gene: SLC2A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930830G>T , CM000663.2:g.42930830G>T GRCh38
NC_000001.10:g.43396501G>T , CM000663.1:g.43396501G>T GRCh37
NC_000001.9:g.43169088G>T NCBI36
NG_008232.1:g.33347C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.312C>A MANE Select ENSP00000416293.2:p.Phe104Leu
ENST00000674765.1:c.312C>A ENSP00000501811.1:p.Phe104Leu
ENST00000675112.1:n.335C>A
ENST00000676254.1:n.761C>A
ENST00000372500.4:c.216C>A ENSP00000361578.4:p.Phe72Leu
ENST00000426263.7:c.312C>A ENSP00000416293.2:p.Phe104Leu
ENST00000439722.2:c.191C>A ENSP00000395521.2:n.191C>A
ENST00000475162.3:c.211C>A
ENST00000625233.2:n.520C>A
ENST00000630287.2:c.312C>A ENSP00000486694.1:p.Phe104Leu
NM_006516.2:c.312C>A NP_006507.2:p.Phe104Leu
NM_006516.3:c.312C>A NP_006507.2:p.Phe104Leu
NM_006516.4:c.312C>A MANE Select NP_006507.2:p.Phe104Leu