Canonical Allele Identifier: CA6746445
Gene: GNPTAB HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.101764576C>T
GRCh37 chr12:g.102158354C>T
Revel Score:
ENST00000299314 (MANE Select) 0.053
gnomAD v2:
12:102158354 C / T
gnomAD v3:
12:101764576 C / T
gnomAD v4:
chr12-101764576-C-T
Joint Max Group AF 0.00029001 (NFE)
Genomes Max Group AF 0.00040492 (NFE)
Exomes Max Group AF 0.00027624 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101764576C>T , CM000674.2:g.101764576C>T GRCh38
NC_000012.11:g.102158354C>T , CM000674.1:g.102158354C>T GRCh37
NC_000012.10:g.100682485C>T NCBI36
NG_021243.1:g.71292G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2341G>A MANE Select ENSP00000299314.7:p.Val781Met
ENST00000299314.11:c.2341G>A ENSP00000299314.7:p.Val781Met
NM_024312.4:c.2341G>A NP_077288.2:p.Val781Met
XM_006719593.2:c.2341G>A XP_006719656.1:p.Val781Met
XM_011538731.1:c.2260G>A XP_011537033.1:p.Val754Met
XM_006719593.3:c.2341G>A XP_006719656.1:p.Val781Met
XM_011538731.2:c.2260G>A XP_011537033.1:p.Val754Met
XM_017019961.1:c.2125G>A XP_016875450.1:p.Val709Met
XM_017019962.2:c.1114G>A XP_016875451.1:p.Val372Met
NM_024312.5:c.2341G>A MANE Select NP_077288.2:p.Val781Met
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