Canonical Allele Identifier: CA267599
Gene: GNPTAB HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.101765143C>T
GRCh37 chr12:g.102158921C>T
Revel Score:
ENST00000299314 (MANE Select) 0.587
gnomAD v2:
12:102158921 C / T
gnomAD v3:
12:101765143 C / T
gnomAD v4:
chr12-101765143-C-T
Joint Max Group AF 0.00011126 (NFE)
Genomes Max Group AF 0.00005842 (NFE)
Exomes Max Group AF 0.00011099 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101765143C>T , CM000674.2:g.101765143C>T GRCh38
NC_000012.11:g.102158921C>T , CM000674.1:g.102158921C>T GRCh37
NC_000012.10:g.100683052C>T NCBI36
NG_021243.1:g.70725G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.1774G>A MANE Select ENSP00000299314.7:p.Ala592Thr
ENST00000299314.11:c.1774G>A ENSP00000299314.7:p.Ala592Thr
NM_024312.4:c.1774G>A NP_077288.2:p.Ala592Thr
XM_006719593.2:c.1774G>A XP_006719656.1:p.Ala592Thr
XM_011538731.1:c.1693G>A XP_011537033.1:p.Ala565Thr
XM_006719593.3:c.1774G>A XP_006719656.1:p.Ala592Thr
XM_011538731.2:c.1693G>A XP_011537033.1:p.Ala565Thr
XM_017019961.1:c.1558G>A XP_016875450.1:p.Ala520Thr
XM_017019962.2:c.547G>A XP_016875451.1:p.Ala183Thr
NM_024312.5:c.1774G>A MANE Select NP_077288.2:p.Ala592Thr
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