Canonical Allele Identifier: CA10065556

Gene: COL18A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45456255C>A , CM000683.2:g.45456255C>A	GRCh38
NC_000021.8:g.46876169C>A , CM000683.1:g.46876169C>A	GRCh37
NC_000021.7:g.45700597C>A	NCBI36
NG_011903.1:g.56073C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001379500.1:c.107-11987C>A MANE Select	NP_001366429.1:n.107-11987C>A
ENST00000651438.1:c.107-11987C>A MANE Select	ENSP00000498485.1:n.107-11987C>A
NM_030582.3:c.646+79C>A	NP_085059.2:n.646+79C>A
NM_030582.4:c.646+79C>A	NP_085059.2:n.646+79C>A
NM_130444.2:c.725C>A	NP_569711.2:p.Ser242Ter
NM_130444.3:c.725C>A	NP_569711.2:p.Ser242Ter
NM_130445.3:c.107-11987C>A	NP_569712.2:n.107-11987C>A
NM_130445.4:c.107-11987C>A	NP_569712.2:n.107-11987C>A
ENST00000355480.10:c.646+79C>A	ENSP00000347665.5:n.646+79C>A
ENST00000355480.9:c.646+79C>A	ENSP00000347665.5:n.646+79C>A
ENST00000359759.8:c.725C>A	ENSP00000352798.4:p.Ser242Ter
ENST00000400337.6:c.107-11987C>A	ENSP00000383191.2:n.107-11987C>A