Canonical Allele Identifier: CA1451947
Gene: GNPAT HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.231266395A>G
GRCh37 chr1:g.231402141A>G
Revel Score:
ENST00000366647 (MANE Select) 0.295
ENST00000366646 0.295
ENST00000416000 0.295
gnomAD v2:
1:231402141 A / G
gnomAD v3:
1:231266395 A / G
gnomAD v4:
chr1-231266395-A-G
Joint Max Group AF 0.00002827 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00002711 (NFE)
ClinVar RCV:
RCV000390788
RCV001511741
ClinVar Variation:
296120
dbSNP:
201538200
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.231266395A>G , CM000663.2:g.231266395A>G GRCh38
NC_000001.10:g.231402141A>G , CM000663.1:g.231402141A>G GRCh37
NC_000001.9:g.229468764A>G NCBI36
NG_008240.1:g.30223A>G
NG_008240.2:g.30223A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366647.9:c.1043A>G MANE Select ENSP00000355607.4:p.Asn348Ser
ENST00000644483.1:c.*729A>G ENSP00000496537.1:n.*729A>G
ENST00000366647.8:c.1043A>G ENSP00000355607.4:p.Asn348Ser
ENST00000416000.1:c.1013A>G ENSP00000411640.1:p.Asn338Ser
ENST00000492459.1:n.151A>G
NM_001316350.1:c.860A>G NP_001303279.1:p.Asn287Ser
NM_014236.3:c.1043A>G NP_055051.1:p.Asn348Ser
XM_005273313.3:c.1040A>G XP_005273370.1:p.Asn347Ser
XM_011544303.1:c.716A>G XP_011542605.1:p.Asn239Ser
XM_011544304.1:c.716A>G XP_011542606.1:p.Asn239Ser
XM_005273313.4:c.1040A>G XP_005273370.1:p.Asn347Ser
XM_011544303.3:c.716A>G XP_011542605.1:p.Asn239Ser
XM_011544304.2:c.716A>G XP_011542606.1:p.Asn239Ser
NM_014236.4:c.1043A>G MANE Select NP_055051.1:p.Asn348Ser
NM_001316350.2:c.860A>G NP_001303279.1:p.Asn287Ser
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