Canonical Allele Identifier: CA318412
Gene: SLC2A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.42931047G>T
GRCh37 chr1:g.43396718G>T
gnomAD v2:
1:43396718 G / T
gnomAD v3:
1:42931047 G / T
gnomAD v4:
chr1-42931047-G-T
Joint Max Group AF 0.00007259 (EAS)
Genomes Max Group AF 0.0000684 (EAS)
Exomes Max Group AF 0.00004907 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42931047G>T , CM000663.2:g.42931047G>T GRCh38
NC_000001.10:g.43396718G>T , CM000663.1:g.43396718G>T GRCh37
NC_000001.9:g.43169305G>T NCBI36
NG_008232.1:g.33130C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.274C>A MANE Select ENSP00000416293.2:p.Arg92=
ENST00000674765.1:c.274C>A ENSP00000501811.1:p.Arg92=
ENST00000675112.1:n.297C>A
ENST00000676254.1:n.723C>A
ENST00000372500.4:c.178C>A ENSP00000361578.4:p.Arg60=
ENST00000415851.6:n.491C>A
ENST00000426263.7:c.274C>A ENSP00000416293.2:p.Arg92=
ENST00000439722.2:c.79C>A ENSP00000395521.2:p.Arg27=
ENST00000475162.3:c.173C>A
ENST00000625233.2:n.482C>A
ENST00000630287.2:c.274C>A ENSP00000486694.1:p.Arg92=
NM_006516.2:c.274C>A NP_006507.2:p.Arg92=
NM_006516.3:c.274C>A NP_006507.2:p.Arg92=
NM_006516.4:c.274C>A MANE Select NP_006507.2:p.Arg92=
Search 100 bp 5'
Search 100 bp 3'