Canonical Allele Identifier: CA8181180

Gene: ADAMTS18

Linked Data

• dbSNP Id: rs765890455
• ExAC: 16:77369793 C / A
• gnomAD v2: 16-77369793-C-A
• gnomAD v4: 16-77335896-C-A
• MyVariant Identifiers: chr16:g.77369793C>A (hg19) ; chr16:g.77335896C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77335896C>A , CM000678.2:g.77335896C>A	GRCh38
NC_000016.9:g.77369793C>A , CM000678.1:g.77369793C>A	GRCh37
NC_000016.8:g.75927294C>A	NCBI36
NG_031879.1:g.104219G>T
NG_031879.2:g.104219G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282849.10:c.1719G>T MANE Select	ENSP00000282849.5:p.Arg573=
ENST00000282849.9:c.1719G>T	ENSP00000282849.5:p.Arg573=
NM_199355.2:c.1719G>T	NP_955387.1:p.Arg573=
XM_011522923.1:c.1203G>T	XP_011521225.1:p.Arg401=
XM_011522924.1:c.1203G>T	XP_011521226.1:p.Arg401=
NM_001326358.1:c.1203G>T	NP_001313287.1:p.Arg401=
NM_199355.3:c.1719G>T	NP_955387.1:p.Arg573=
XM_011522924.2:c.1203G>T	XP_011521226.1:p.Arg401=
XM_017022988.2:c.483G>T	XP_016878477.1:p.Arg161=
XM_017022989.1:c.483G>T	XP_016878478.1:p.Arg161=
NM_199355.4:c.1719G>T MANE Select	NP_955387.1:p.Arg573=
NM_001326358.2:c.1203G>T	NP_001313287.1:p.Arg401=