Canonical Allele Identifier: CA2692461735
Gene: COL5A1 HGNC NCBI

Linked Data

gnomAD v4: 9-134842304-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842304G>C , CM000671.2:g.134842304G>C GRCh38
NC_000009.11:g.137734150G>C , CM000671.1:g.137734150G>C GRCh37
NC_000009.10:g.136873971G>C NCBI36
NG_008030.1:g.205499G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*1G>C ENSP00000360885.4:n.*1G>C
ENST00000371817.8:c.*1G>C MANE Select ENSP00000360882.3:n.*1G>C
ENST00000371817.7:c.*1G>C ENSP00000360882.3:n.*1G>C
ENST00000618395.4:c.*1G>C ENSP00000481360.1:n.*1G>C
NM_000093.4:c.*1G>C NP_000084.3:n.*1G>C
NM_001278074.1:c.*1G>C NP_001265003.1:n.*1G>C
NR_103451.2:n.71-22095C>G
NM_000093.5:c.*1G>C MANE Select NP_000084.3:n.*1G>C
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