Canonical Allele Identifier: CA803591
Gene: SLC2A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.42931071C>T
GRCh37 chr1:g.43396742C>T
Revel Score:
ENST00000426263 (MANE Select) 0.913
ENST00000372501 0.913
ENST00000397019 0.913
ENST00000415851 0.913
ENST00000372500 0.913
gnomAD v2:
1:43396742 C / T
gnomAD v3:
1:42931071 C / T
gnomAD v4:
chr1-42931071-C-T
Joint Max Group AF 0.00000247 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42931071C>T , CM000663.2:g.42931071C>T GRCh38
NC_000001.10:g.43396742C>T , CM000663.1:g.43396742C>T GRCh37
NC_000001.9:g.43169329C>T NCBI36
NG_008232.1:g.33106G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.250G>A MANE Select ENSP00000416293.2:p.Gly84Ser
ENST00000674765.1:c.250G>A ENSP00000501811.1:p.Gly84Ser
ENST00000675112.1:n.273G>A
ENST00000676254.1:n.699G>A
ENST00000372500.4:c.154G>A ENSP00000361578.4:p.Gly52Ser
ENST00000415851.6:n.467G>A
ENST00000426263.7:c.250G>A ENSP00000416293.2:p.Gly84Ser
ENST00000439722.2:c.55G>A ENSP00000395521.2:p.Gly19Ser
ENST00000475162.3:c.149G>A
ENST00000625233.2:n.458G>A
ENST00000630287.2:c.250G>A ENSP00000486694.1:p.Gly84Ser
NM_006516.2:c.250G>A NP_006507.2:p.Gly84Ser
NM_006516.3:c.250G>A NP_006507.2:p.Gly84Ser
NM_006516.4:c.250G>A MANE Select NP_006507.2:p.Gly84Ser
Search 100 bp 5'
Search 100 bp 3'