Canonical Allele Identifier: CA6746871
Gene: GNPTAB HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.101786083A>T
GRCh37 chr12:g.102179861A>T
Revel Score:
ENST00000299314 (MANE Select) 0.250
ENST00000549940 0.250
ENST00000552681 0.250
ENST00000547090 0.250
gnomAD v2:
12:102179861 A / T
gnomAD v3:
12:101786083 A / T
gnomAD v4:
chr12-101786083-A-T
Joint Max Group AF 0.00129461 (AMR)
Genomes Max Group AF 0.00113522 (AMR)
Exomes Max Group AF 0.00122995 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101786083A>T , CM000674.2:g.101786083A>T GRCh38
NC_000012.11:g.102179861A>T , CM000674.1:g.102179861A>T GRCh37
NC_000012.10:g.100703992A>T NCBI36
NG_021243.1:g.49785T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.500T>A MANE Select ENSP00000299314.7:p.Ile167Asn
ENST00000299314.11:c.500T>A ENSP00000299314.7:p.Ile167Asn
ENST00000549940.5:c.500T>A ENSP00000449150.1:p.Ile167Asn
ENST00000550352.1:n.294T>A
ENST00000552681.1:c.134T>A ENSP00000449217.1:p.Ile45Asn
NM_024312.4:c.500T>A NP_077288.2:p.Ile167Asn
XM_006719593.2:c.500T>A XP_006719656.1:p.Ile167Asn
XM_011538731.1:c.419T>A XP_011537033.1:p.Ile140Asn
XM_006719593.3:c.500T>A XP_006719656.1:p.Ile167Asn
XM_011538731.2:c.419T>A XP_011537033.1:p.Ile140Asn
XM_017019961.1:c.284T>A XP_016875450.1:p.Ile95Asn
XM_017019962.2:c.-851T>A XP_016875451.1:n.-851T>A
NM_024312.5:c.500T>A MANE Select NP_077288.2:p.Ile167Asn
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