Canonical Allele Identifier: CA2692462780
Gene: COL5A1 HGNC NCBI

Linked Data

gnomAD v4: 9-134843497-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843497C>A , CM000671.2:g.134843497C>A GRCh38
NC_000009.11:g.137735343C>A , CM000671.1:g.137735343C>A GRCh37
NC_000009.10:g.136875164C>A NCBI36
NG_008030.1:g.206692C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*1194C>A ENSP00000360885.4:n.*1194C>A
ENST00000371817.8:c.*1194C>A MANE Select ENSP00000360882.3:n.*1194C>A
ENST00000371817.7:c.*1194C>A ENSP00000360882.3:n.*1194C>A
ENST00000618395.4:c.*1194C>A ENSP00000481360.1:n.*1194C>A
NM_000093.4:c.*1194C>A NP_000084.3:n.*1194C>A
NM_001278074.1:c.*1194C>A NP_001265003.1:n.*1194C>A
NR_103451.2:n.71-23288G>T
NM_000093.5:c.*1194C>A MANE Select NP_000084.3:n.*1194C>A
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