Canonical Allele Identifier: CA1387934066

Gene: COL8A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.99677387A= , CM000665.2:g.99677387A=	GRCh38
NC_000003.11:g.99396231A= , CM000665.1:g.99396231A=	GRCh37
NC_000003.10:g.100878921A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652472.1:c.-129+38723A= MANE Select	ENSP00000498483.1:n.-129+38723A=
ENST00000261037.7:c.-129+1666A=	ENSP00000261037.3:n.-129+1666A=
ENST00000273342.8:c.-129+38723A=	ENSP00000273342.3:n.-129+38723A=
ENST00000452013.5:c.-129+38723A=	ENSP00000387589.1:n.-129+38723A=
ENST00000463753.5:n.253-364A=
ENST00000474648.5:n.252+1666A=
ENST00000483969.5:n.252+1666A=
ENST00000621757.1:c.-298-14012A=	ENSP00000482679.1:n.-298-14012A=
NM_001850.4:c.-129+1666A=	NP_001841.2:n.-129+1666A=
NM_020351.3:c.-129+38723A=	NP_065084.2:n.-129+38723A=
NM_020351.4:c.-129+38723A= MANE Select	NP_065084.2:n.-129+38723A=
NM_001850.5:c.-129+1666A=	NP_001841.2:n.-129+1666A=