Canonical Allele Identifier: CA396832240

Gene: ADAMTS18

Linked Data

• MyVariant Identifiers: chr16:g.77369749A>C (hg19) ; chr16:g.77335852A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77335852A>C , CM000678.2:g.77335852A>C	GRCh38
NC_000016.9:g.77369749A>C , CM000678.1:g.77369749A>C	GRCh37
NC_000016.8:g.75927250A>C	NCBI36
NG_031879.1:g.104263T>G
NG_031879.2:g.104263T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282849.10:c.1763T>G MANE Select	ENSP00000282849.5:p.Ile588Ser
ENST00000282849.9:c.1763T>G	ENSP00000282849.5:p.Ile588Ser
NM_199355.2:c.1763T>G	NP_955387.1:p.Ile588Ser
XM_011522923.1:c.1247T>G	XP_011521225.1:p.Ile416Ser
XM_011522924.1:c.1247T>G	XP_011521226.1:p.Ile416Ser
NM_001326358.1:c.1247T>G	NP_001313287.1:p.Ile416Ser
NM_199355.3:c.1763T>G	NP_955387.1:p.Ile588Ser
XM_011522924.2:c.1247T>G	XP_011521226.1:p.Ile416Ser
XM_017022988.2:c.527T>G	XP_016878477.1:p.Ile176Ser
XM_017022989.1:c.527T>G	XP_016878478.1:p.Ile176Ser
NM_199355.4:c.1763T>G MANE Select	NP_955387.1:p.Ile588Ser
NM_001326358.2:c.1247T>G	NP_001313287.1:p.Ile416Ser