Canonical Allele Identifier: CA2645198555
Gene: SLC2A1 HGNC NCBI

Linked Data

gnomAD v4: 1-42927892-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927892C>G , CM000663.2:g.42927892C>G GRCh38
NC_000001.10:g.43393563C>G , CM000663.1:g.43393563C>G GRCh37
NC_000001.9:g.43166150C>G NCBI36
NG_008232.1:g.36285G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1075-84G>C MANE Select ENSP00000416293.2:n.1075-84G>C
ENST00000674545.1:n.1608G>C
ENST00000674765.1:c.1030-1035G>C ENSP00000501811.1:n.1030-1035G>C
ENST00000675112.1:n.1376-84G>C
ENST00000676254.1:n.1524-84G>C
ENST00000426263.7:c.1075-84G>C ENSP00000416293.2:n.1075-84G>C
ENST00000475162.3:c.416-914G>C
ENST00000630287.2:c.*390-84G>C ENSP00000486694.1:n.*390-84G>C
NM_006516.2:c.1075-84G>C NP_006507.2:n.1075-84G>C
NM_006516.3:c.1075-84G>C NP_006507.2:n.1075-84G>C
NM_006516.4:c.1075-84G>C MANE Select NP_006507.2:n.1075-84G>C
Search 100 bp 5'
Search 100 bp 3'