Canonical Allele Identifier: CA1129894766
Gene: COL5A1 HGNC NCBI

Linked Data

gnomAD v3: 9-134843062-T-A
gnomAD v4: 9-134843062-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843062T>A , CM000671.2:g.134843062T>A GRCh38
NC_000009.11:g.137734908T>A , CM000671.1:g.137734908T>A GRCh37
NC_000009.10:g.136874729T>A NCBI36
NG_008030.1:g.206257T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*759T>A ENSP00000360885.4:n.*759T>A
ENST00000371817.8:c.*759T>A MANE Select ENSP00000360882.3:n.*759T>A
ENST00000371817.7:c.*759T>A ENSP00000360882.3:n.*759T>A
ENST00000618395.4:c.*759T>A ENSP00000481360.1:n.*759T>A
NM_000093.4:c.*759T>A NP_000084.3:n.*759T>A
NM_001278074.1:c.*759T>A NP_001265003.1:n.*759T>A
NR_103451.2:n.71-22853A>T
NM_000093.5:c.*759T>A MANE Select NP_000084.3:n.*759T>A
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