Canonical Allele Identifier: CA2645198441
Gene: SLC2A1 HGNC NCBI

Linked Data

gnomAD v4: 1-42927814-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927814G>C , CM000663.2:g.42927814G>C GRCh38
NC_000001.10:g.43393485G>C , CM000663.1:g.43393485G>C GRCh37
NC_000001.9:g.43166072G>C NCBI36
NG_008232.1:g.36363C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1075-6C>G MANE Select ENSP00000416293.2:n.1075-6C>G
ENST00000674545.1:n.1686C>G
ENST00000674765.1:c.1030-957C>G ENSP00000501811.1:n.1030-957C>G
ENST00000675112.1:n.1376-6C>G
ENST00000676254.1:n.1524-6C>G
ENST00000426263.7:c.1075-6C>G ENSP00000416293.2:n.1075-6C>G
ENST00000475162.3:c.416-836C>G
ENST00000630287.2:c.*390-6C>G ENSP00000486694.1:n.*390-6C>G
NM_006516.2:c.1075-6C>G NP_006507.2:n.1075-6C>G
NM_006516.3:c.1075-6C>G NP_006507.2:n.1075-6C>G
NM_006516.4:c.1075-6C>G MANE Select NP_006507.2:n.1075-6C>G