Canonical Allele Identifier: CA1387934047
Gene: COL8A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.99677329T= , CM000665.2:g.99677329T= GRCh38
NC_000003.11:g.99396173T= , CM000665.1:g.99396173T= GRCh37
NC_000003.10:g.100878863T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000652472.1:c.-129+38665T= MANE Select ENSP00000498483.1:n.-129+38665T=
ENST00000261037.7:c.-129+1608T= ENSP00000261037.3:n.-129+1608T=
ENST00000273342.8:c.-129+38665T= ENSP00000273342.3:n.-129+38665T=
ENST00000452013.5:c.-129+38665T= ENSP00000387589.1:n.-129+38665T=
ENST00000463753.5:n.253-422T=
ENST00000474648.5:n.252+1608T=
ENST00000483969.5:n.252+1608T=
ENST00000621757.1:c.-298-14070T= ENSP00000482679.1:n.-298-14070T=
NM_001850.4:c.-129+1608T= NP_001841.2:n.-129+1608T=
NM_020351.3:c.-129+38665T= NP_065084.2:n.-129+38665T=
NM_020351.4:c.-129+38665T= MANE Select NP_065084.2:n.-129+38665T=
NM_001850.5:c.-129+1608T= NP_001841.2:n.-129+1608T=
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