Canonical Allele Identifier: CA10065787

Gene: COL18A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45468713G>A , CM000683.2:g.45468713G>A	GRCh38
NC_000021.8:g.46888627G>A , CM000683.1:g.46888627G>A	GRCh37
NC_000021.7:g.45713055G>A	NCBI36
NG_011903.1:g.68531G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001379500.1:c.578G>A MANE Select	NP_001366429.1:p.Arg193Gln
ENST00000651438.1:c.578G>A MANE Select	ENSP00000498485.1:p.Arg193Gln
NM_030582.3:c.1118G>A	NP_085059.2:p.Arg373Gln
NM_030582.4:c.1118G>A	NP_085059.2:p.Arg373Gln
NM_130444.2:c.1823G>A	NP_569711.2:p.Arg608Gln
NM_130444.3:c.1823G>A	NP_569711.2:p.Arg608Gln
NM_130445.3:c.578G>A	NP_569712.2:p.Arg193Gln
NM_130445.4:c.578G>A	NP_569712.2:p.Arg193Gln
ENST00000355480.10:c.1118G>A	ENSP00000347665.5:p.Arg373Gln
ENST00000355480.9:c.1118G>A	ENSP00000347665.5:p.Arg373Gln
ENST00000359759.8:c.1823G>A	ENSP00000352798.4:p.Arg608Gln
ENST00000400337.6:c.578G>A	ENSP00000383191.2:p.Arg193Gln