Canonical Allele Identifier: CA2695703166
Gene: SLC2A1 HGNC NCBI

Linked Data

dbSNP Id: rs2124446725
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927888A>G , CM000663.2:g.42927888A>G GRCh38
NC_000001.10:g.43393559A>G , CM000663.1:g.43393559A>G GRCh37
NC_000001.9:g.43166146A>G NCBI36
NG_008232.1:g.36289T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1075-80T>C MANE Select ENSP00000416293.2:n.1075-80T>C
ENST00000674545.1:n.1612T>C
ENST00000674765.1:c.1030-1031T>C ENSP00000501811.1:n.1030-1031T>C
ENST00000675112.1:n.1376-80T>C
ENST00000676254.1:n.1524-80T>C
ENST00000426263.7:c.1075-80T>C ENSP00000416293.2:n.1075-80T>C
ENST00000475162.3:c.416-910T>C
ENST00000630287.2:c.*390-80T>C ENSP00000486694.1:n.*390-80T>C
NM_006516.2:c.1075-80T>C NP_006507.2:n.1075-80T>C
NM_006516.3:c.1075-80T>C NP_006507.2:n.1075-80T>C
NM_006516.4:c.1075-80T>C MANE Select NP_006507.2:n.1075-80T>C
Search 100 bp 5'
Search 100 bp 3'