Canonical Allele Identifier: CA1129894793
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1830151499
gnomAD v3: 9-134843118-A-C
gnomAD v4: 9-134843118-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843118A>C , CM000671.2:g.134843118A>C GRCh38
NC_000009.11:g.137734964A>C , CM000671.1:g.137734964A>C GRCh37
NC_000009.10:g.136874785A>C NCBI36
NG_008030.1:g.206313A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*815A>C ENSP00000360885.4:n.*815A>C
ENST00000371817.8:c.*815A>C MANE Select ENSP00000360882.3:n.*815A>C
ENST00000371817.7:c.*815A>C ENSP00000360882.3:n.*815A>C
ENST00000618395.4:c.*815A>C ENSP00000481360.1:n.*815A>C
NM_000093.4:c.*815A>C NP_000084.3:n.*815A>C
NM_001278074.1:c.*815A>C NP_001265003.1:n.*815A>C
NR_103451.2:n.71-22909T>G
NM_000093.5:c.*815A>C MANE Select NP_000084.3:n.*815A>C
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