Canonical Allele Identifier: CA2645198862
Gene: SLC2A1 HGNC NCBI

Linked Data

gnomAD v4: 1-42929043-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929043G>C , CM000663.2:g.42929043G>C GRCh38
NC_000001.10:g.43394714G>C , CM000663.1:g.43394714G>C GRCh37
NC_000001.9:g.43167301G>C NCBI36
NG_008232.1:g.35134C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.973-10C>G MANE Select ENSP00000416293.2:n.973-10C>G
ENST00000674545.1:n.457C>G
ENST00000674765.1:c.973-10C>G ENSP00000501811.1:n.973-10C>G
ENST00000675112.1:n.1274-10C>G
ENST00000676254.1:n.1422-10C>G
ENST00000426263.7:c.973-10C>G ENSP00000416293.2:n.973-10C>G
ENST00000439722.2:c.852-10C>G ENSP00000395521.2:n.852-10C>G
ENST00000475162.3:c.415+1583C>G
ENST00000630287.2:c.*288-10C>G ENSP00000486694.1:n.*288-10C>G
NM_006516.2:c.973-10C>G NP_006507.2:n.973-10C>G
NM_006516.3:c.973-10C>G NP_006507.2:n.973-10C>G
NM_006516.4:c.973-10C>G MANE Select NP_006507.2:n.973-10C>G