Canonical Allele Identifier: CA1387934117
Gene: COL8A1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.99677479G= , CM000665.2:g.99677479G= GRCh38
NC_000003.11:g.99396323G= , CM000665.1:g.99396323G= GRCh37
NC_000003.10:g.100879013G= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000652472.1:c.-129+38815G= MANE Select ENSP00000498483.1:n.-129+38815G=
ENST00000261037.7:c.-129+1758G= ENSP00000261037.3:n.-129+1758G=
ENST00000273342.8:c.-129+38815G= ENSP00000273342.3:n.-129+38815G=
ENST00000452013.5:c.-129+38815G= ENSP00000387589.1:n.-129+38815G=
ENST00000463753.5:n.253-272G=
ENST00000474648.5:n.252+1758G=
ENST00000483969.5:n.252+1758G=
ENST00000621757.1:c.-298-13920G= ENSP00000482679.1:n.-298-13920G=
NM_001850.4:c.-129+1758G= NP_001841.2:n.-129+1758G=
NM_020351.3:c.-129+38815G= NP_065084.2:n.-129+38815G=
NM_020351.4:c.-129+38815G= MANE Select NP_065084.2:n.-129+38815G=
NM_001850.5:c.-129+1758G= NP_001841.2:n.-129+1758G=
Search 100 bp 5'
Search 100 bp 3'