Canonical Allele Identifier: CA8181178

Gene: ADAMTS18

Linked Data

• dbSNP Id: rs776528469
• ExAC: 16:77369783 A / G
• gnomAD v2: 16-77369783-A-G
• gnomAD v4: 16-77335886-A-G
• MyVariant Identifiers: chr16:g.77369783A>G (hg19) ; chr16:g.77335886A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77335886A>G , CM000678.2:g.77335886A>G	GRCh38
NC_000016.9:g.77369783A>G , CM000678.1:g.77369783A>G	GRCh37
NC_000016.8:g.75927284A>G	NCBI36
NG_031879.1:g.104229T>C
NG_031879.2:g.104229T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282849.10:c.1729T>C MANE Select	ENSP00000282849.5:p.Cys577Arg
ENST00000282849.9:c.1729T>C	ENSP00000282849.5:p.Cys577Arg
NM_199355.2:c.1729T>C	NP_955387.1:p.Cys577Arg
XM_011522923.1:c.1213T>C	XP_011521225.1:p.Cys405Arg
XM_011522924.1:c.1213T>C	XP_011521226.1:p.Cys405Arg
NM_001326358.1:c.1213T>C	NP_001313287.1:p.Cys405Arg
NM_199355.3:c.1729T>C	NP_955387.1:p.Cys577Arg
XM_011522924.2:c.1213T>C	XP_011521226.1:p.Cys405Arg
XM_017022988.2:c.493T>C	XP_016878477.1:p.Cys165Arg
XM_017022989.1:c.493T>C	XP_016878478.1:p.Cys165Arg
NM_199355.4:c.1729T>C MANE Select	NP_955387.1:p.Cys577Arg
NM_001326358.2:c.1213T>C	NP_001313287.1:p.Cys405Arg