Canonical Allele Identifier: CA6746055
Gene: GNPTAB HGNC NCBI
CHPT1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.101747225C>T
GRCh37 chr12:g.102141003C>T
Revel Score:
ENST00000299314 (MANE Select) 0.619
gnomAD v2:
12:102141003 C / T
gnomAD v3:
12:101747225 C / T
gnomAD v4:
chr12-101747225-C-T
Joint Max Group AF 0.00073366 (EAS)
Genomes Max Group AF 0.00015659 (EAS)
Exomes Max Group AF 0.00076372 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101747225C>T , CM000674.2:g.101747225C>T GRCh38
NC_000012.11:g.102141003C>T , CM000674.1:g.102141003C>T GRCh37
NC_000012.10:g.100665134C>T NCBI36
NG_021243.1:g.88643G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.3710G>A (GNPTAB) MANE Select ENSP00000299314.7:p.Arg1237Gln
ENST00000299314.11:c.3710G>A (GNPTAB) ENSP00000299314.7:p.Arg1237Gln
NM_024312.4:c.3710G>A (GNPTAB) NP_077288.2:p.Arg1237Gln
XM_011538731.1:c.3629G>A (GNPTAB) XP_011537033.1:p.Arg1210Gln
XM_011538731.2:c.3629G>A (GNPTAB) XP_011537033.1:p.Arg1210Gln
XM_017019961.1:c.3494G>A (GNPTAB) XP_016875450.1:p.Arg1165Gln
XM_017019962.2:c.2483G>A (GNPTAB) XP_016875451.1:p.Arg828Gln
XR_001748817.1:n.3015-1325C>T (CHPT1)
NM_024312.5:c.3710G>A (GNPTAB) MANE Select NP_077288.2:p.Arg1237Gln
Search 100 bp 5'
Search 100 bp 3'