Canonical Allele Identifier: CA5763335
Gene: ADAM8 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133275531A>G , CM000672.2:g.133275531A>G GRCh38
NC_000010.10:g.135089035A>G , CM000672.1:g.135089035A>G GRCh37
NC_000010.9:g.134939025A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000445355.8:c.103T>C MANE Select ENSP00000453302.1:p.Trp35Arg
ENST00000415217.7:c.103T>C ENSP00000453855.1:p.Trp35Arg
ENST00000445355.7:c.103T>C ENSP00000453302.1:p.Trp35Arg
ENST00000463298.5:n.142T>C
ENST00000485491.6:c.46+1241T>C ENSP00000453043.1:n.46+1241T>C
ENST00000486609.1:c.103T>C ENSP00000453735.1:p.Trp35Arg
ENST00000537099.5:n.346T>C
ENST00000559180.1:n.154T>C
ENST00000560135.5:c.46+1241T>C ENSP00000452994.1:n.46+1241T>C
NM_001109.4:c.103T>C NP_001100.3:p.Trp35Arg
NM_001164489.1:c.103T>C NP_001157961.1:p.Trp35Arg
NM_001164490.1:c.46+1241T>C NP_001157962.1:n.46+1241T>C
XM_011539118.1:c.28T>C XP_011537420.1:p.Trp10Arg
XM_011539117.2:c.103T>C XP_011537419.2:p.Trp35Arg
XM_017015465.1:c.103T>C XP_016870954.1:p.Trp35Arg
XM_017015466.1:c.103T>C XP_016870955.1:p.Trp35Arg
NM_001109.5:c.103T>C MANE Select NP_001100.3:p.Trp35Arg
NM_001164489.2:c.103T>C NP_001157961.1:p.Trp35Arg
NM_001164490.2:c.46+1241T>C NP_001157962.1:n.46+1241T>C