Canonical Allele Identifier: CA396831862

Gene: ADAMTS18

Linked Data

• dbSNP Id: rs146655130
• gnomAD v2: 16-77369682-C-G
• gnomAD v4: 16-77335785-C-G
• MyVariant Identifiers: chr16:g.77369682C>G (hg19) ; chr16:g.77335785C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77335785C>G , CM000678.2:g.77335785C>G	GRCh38
NC_000016.9:g.77369682C>G , CM000678.1:g.77369682C>G	GRCh37
NC_000016.8:g.75927183C>G	NCBI36
NG_031879.1:g.104330G>C
NG_031879.2:g.104330G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282849.10:c.1830G>C MANE Select	ENSP00000282849.5:p.Lys610Asn
ENST00000282849.9:c.1830G>C	ENSP00000282849.5:p.Lys610Asn
NM_199355.2:c.1830G>C	NP_955387.1:p.Lys610Asn
XM_006721158.2:c.-86G>C	XP_006721221.1:n.-86G>C
XM_011522923.1:c.1314G>C	XP_011521225.1:p.Lys438Asn
XM_011522924.1:c.1314G>C	XP_011521226.1:p.Lys438Asn
NM_001326358.1:c.1314G>C	NP_001313287.1:p.Lys438Asn
NM_199355.3:c.1830G>C	NP_955387.1:p.Lys610Asn
XM_011522924.2:c.1314G>C	XP_011521226.1:p.Lys438Asn
XM_017022988.2:c.594G>C	XP_016878477.1:p.Lys198Asn
XM_017022989.1:c.594G>C	XP_016878478.1:p.Lys198Asn
NM_199355.4:c.1830G>C MANE Select	NP_955387.1:p.Lys610Asn
NM_001326358.2:c.1314G>C	NP_001313287.1:p.Lys438Asn