Canonical Allele Identifier: CA7585715
Gene: ADAM10 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.58665172C>G
GRCh37 chr15:g.58957371C>G
Revel Score:
ENST00000260408 (MANE Select) 0.234
ENST00000439637 0.234
gnomAD v2:
15:58957371 C / G
gnomAD v3:
15:58665172 C / G
gnomAD v4:
chr15-58665172-C-G
Joint Max Group AF 0.00399482 (AMR)
Genomes Max Group AF 0.00568252 (AMR)
Exomes Max Group AF 0.00318825 (AMR)
ClinVar RCV:
RCV000077797
RCV002247474
ClinVar Variation:
92163
dbSNP:
61751103
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58665172C>G , CM000677.2:g.58665172C>G GRCh38
NC_000015.9:g.58957371C>G , CM000677.1:g.58957371C>G GRCh37
NC_000015.8:g.56744663C>G NCBI36
NG_033876.1:g.89807G>C
NG_033876.2:g.89536G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260408.8:c.510G>C MANE Select ENSP00000260408.3:p.Gln170His
ENST00000260408.7:c.510G>C ENSP00000260408.3:p.Gln170His
ENST00000396136.6:c.336G>C
ENST00000402627.5:c.56-24342G>C ENSP00000386056.1:n.56-24342G>C
ENST00000439637.5:c.351G>C ENSP00000391930.1:p.Gln117His
ENST00000497846.5:n.627G>C
ENST00000558733.5:n.746G>C
ENST00000559053.1:c.56-24342G>C ENSP00000453952.1:n.56-24342G>C
ENST00000561288.1:c.56-67654G>C ENSP00000452639.1:n.56-67654G>C
NM_001110.3:c.510G>C NP_001101.1:p.Gln170His
XM_005254117.2:c.510G>C XP_005254174.1:p.Gln170His
NM_001320570.1:c.510G>C NP_001307499.1:p.Gln170His
XM_024449818.1:c.288G>C XP_024305586.1:p.Gln96His
NM_001110.4:c.510G>C MANE Select NP_001101.1:p.Gln170His
NM_001320570.2:c.510G>C NP_001307499.1:p.Gln170His
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