Canonical Allele Identifier: CA2580587820

Gene: COL8A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.99677428T>A , CM000665.2:g.99677428T>A	GRCh38
NC_000003.11:g.99396272T>A , CM000665.1:g.99396272T>A	GRCh37
NC_000003.10:g.100878962T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652472.1:c.-129+38764T>A MANE Select	ENSP00000498483.1:n.-129+38764T>A
ENST00000261037.7:c.-129+1707T>A	ENSP00000261037.3:n.-129+1707T>A
ENST00000273342.8:c.-129+38764T>A	ENSP00000273342.3:n.-129+38764T>A
ENST00000452013.5:c.-129+38764T>A	ENSP00000387589.1:n.-129+38764T>A
ENST00000463753.5:n.253-323T>A
ENST00000474648.5:n.252+1707T>A
ENST00000483969.5:n.252+1707T>A
ENST00000621757.1:c.-298-13971T>A	ENSP00000482679.1:n.-298-13971T>A
NM_001850.4:c.-129+1707T>A	NP_001841.2:n.-129+1707T>A
NM_020351.3:c.-129+38764T>A	NP_065084.2:n.-129+38764T>A
NM_020351.4:c.-129+38764T>A MANE Select	NP_065084.2:n.-129+38764T>A
NM_001850.5:c.-129+1707T>A	NP_001841.2:n.-129+1707T>A