Canonical Allele Identifier: CA5741014
Gene: ADAM12 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.126330456C>A
GRCh37 chr10:g.128019025C>A
Revel Score:
ENST00000368679 0.061
ENST00000368676 0.061
ENST00000448723 (MANE Select) 0.061
gnomAD v2:
10:128019025 C / A
gnomAD v3:
10:126330456 C / A
gnomAD v4:
chr10-126330456-C-A
Joint Max Group AF 0.00398539 (NFE)
Genomes Max Group AF 0.00319153 (NFE)
Exomes Max Group AF 0.00401332 (NFE)
dbSNP:
3740199
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.126330456C>A , CM000672.2:g.126330456C>A GRCh38
NC_000010.10:g.128019025C>A , CM000672.1:g.128019025C>A GRCh37
NC_000010.9:g.128009015C>A NCBI36
NG_029050.1:g.63103G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000448723.2:c.142G>T MANE Select ENSP00000391268.2:p.Gly48Trp
ENST00000368676.8:c.142G>T ENSP00000357665.4:p.Gly48Trp
ENST00000368679.8:c.142G>T ENSP00000357668.4:p.Gly48Trp
ENST00000448723.1:c.142G>T ENSP00000391268.1:p.Gly48Trp
NM_001288973.1:c.142G>T NP_001275902.1:p.Gly48Trp
NM_001288974.1:c.142G>T NP_001275903.1:p.Gly48Trp
NM_001288975.1:c.142G>T NP_001275904.1:p.Gly48Trp
NM_003474.5:c.142G>T NP_003465.3:p.Gly48Trp
NM_021641.4:c.142G>T NP_067673.2:p.Gly48Trp
NM_001288973.2:c.142G>T MANE Select NP_001275902.1:p.Gly48Trp
NM_001288974.2:c.142G>T NP_001275903.1:p.Gly48Trp
NM_001288975.2:c.142G>T NP_001275904.1:p.Gly48Trp
NM_003474.6:c.142G>T NP_003465.3:p.Gly48Trp
NM_021641.5:c.142G>T NP_067673.2:p.Gly48Trp
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