Canonical Allele Identifier: CA1387934102
Gene: COL8A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.99677456T= , CM000665.2:g.99677456T= GRCh38
NC_000003.11:g.99396300T= , CM000665.1:g.99396300T= GRCh37
NC_000003.10:g.100878990T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000652472.1:c.-129+38792T= MANE Select ENSP00000498483.1:n.-129+38792T=
ENST00000261037.7:c.-129+1735T= ENSP00000261037.3:n.-129+1735T=
ENST00000273342.8:c.-129+38792T= ENSP00000273342.3:n.-129+38792T=
ENST00000452013.5:c.-129+38792T= ENSP00000387589.1:n.-129+38792T=
ENST00000463753.5:n.253-295T=
ENST00000474648.5:n.252+1735T=
ENST00000483969.5:n.252+1735T=
ENST00000621757.1:c.-298-13943T= ENSP00000482679.1:n.-298-13943T=
NM_001850.4:c.-129+1735T= NP_001841.2:n.-129+1735T=
NM_020351.3:c.-129+38792T= NP_065084.2:n.-129+38792T=
NM_020351.4:c.-129+38792T= MANE Select NP_065084.2:n.-129+38792T=
NM_001850.5:c.-129+1735T= NP_001841.2:n.-129+1735T=
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