Canonical Allele Identifier: CA149257
Gene: GNPTAB HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.101753376C>T
GRCh37 chr12:g.102147154C>T
Revel Score:
ENST00000299314 (MANE Select) 0.805
gnomAD v2:
12:102147154 C / T
gnomAD v3:
12:101753376 C / T
gnomAD v4:
chr12-101753376-C-T
Joint Max Group AF 0.01956705 (SAS)
Genomes Max Group AF 0.01496371 (SAS)
Exomes Max Group AF 0.01967292 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753376C>T , CM000674.2:g.101753376C>T GRCh38
NC_000012.11:g.102147154C>T , CM000674.1:g.102147154C>T GRCh37
NC_000012.10:g.100671285C>T NCBI36
NG_021243.1:g.82492G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.3598G>A MANE Select ENSP00000299314.7:p.Glu1200Lys
ENST00000299314.11:c.3598G>A ENSP00000299314.7:p.Glu1200Lys
ENST00000549738.5:c.496G>A ENSP00000450161.1:n.496G>A
NM_024312.4:c.3598G>A NP_077288.2:p.Glu1200Lys
XM_011538731.1:c.3517G>A XP_011537033.1:p.Glu1173Lys
XM_011538731.2:c.3517G>A XP_011537033.1:p.Glu1173Lys
XM_017019961.1:c.3382G>A XP_016875450.1:p.Glu1128Lys
XM_017019962.2:c.2371G>A XP_016875451.1:p.Glu791Lys
NM_024312.5:c.3598G>A MANE Select NP_077288.2:p.Glu1200Lys
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