Canonical Allele Identifier: CA1451841
Gene: GNPAT HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.231265353G>A
GRCh37 chr1:g.231401099G>A
Revel Score:
ENST00000436239 0.936
ENST00000366647 (MANE Select) 0.936
ENST00000366646 0.936
ENST00000416000 0.936
gnomAD v2:
1:231401099 G / A
gnomAD v3:
1:231265353 G / A
gnomAD v4:
chr1-231265353-G-A
Joint Max Group AF 0.00590643 (AFR)
Genomes Max Group AF 0.00531569 (AFR)
Exomes Max Group AF 0.00621336 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.231265353G>A , CM000663.2:g.231265353G>A GRCh38
NC_000001.10:g.231401099G>A , CM000663.1:g.231401099G>A GRCh37
NC_000001.9:g.229467722G>A NCBI36
NG_008240.1:g.29181G>A
NG_008240.2:g.29181G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366647.9:c.629G>A MANE Select ENSP00000355607.4:p.Arg210Gln
ENST00000644483.1:c.*315G>A ENSP00000496537.1:n.*315G>A
ENST00000366647.8:c.629G>A ENSP00000355607.4:p.Arg210Gln
ENST00000416000.1:c.599G>A ENSP00000411640.1:p.Arg200Gln
ENST00000436239.5:c.446G>A ENSP00000402811.1:p.Arg149Gln
NM_001316350.1:c.446G>A NP_001303279.1:p.Arg149Gln
NM_014236.3:c.629G>A NP_055051.1:p.Arg210Gln
XM_005273313.3:c.626G>A XP_005273370.1:p.Arg209Gln
XM_011544303.1:c.302G>A XP_011542605.1:p.Arg101Gln
XM_011544304.1:c.302G>A XP_011542606.1:p.Arg101Gln
XM_005273313.4:c.626G>A XP_005273370.1:p.Arg209Gln
XM_011544303.3:c.302G>A XP_011542605.1:p.Arg101Gln
XM_011544304.2:c.302G>A XP_011542606.1:p.Arg101Gln
NM_014236.4:c.629G>A MANE Select NP_055051.1:p.Arg210Gln
NM_001316350.2:c.446G>A NP_001303279.1:p.Arg149Gln
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