Canonical Allele Identifier: CA1129895121
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1830159640
gnomAD v3: 9-134843442-T-G
gnomAD v4: 9-134843442-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843442T>G , CM000671.2:g.134843442T>G GRCh38
NC_000009.11:g.137735288T>G , CM000671.1:g.137735288T>G GRCh37
NC_000009.10:g.136875109T>G NCBI36
NG_008030.1:g.206637T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*1139T>G ENSP00000360885.4:n.*1139T>G
ENST00000371817.8:c.*1139T>G MANE Select ENSP00000360882.3:n.*1139T>G
ENST00000371817.7:c.*1139T>G ENSP00000360882.3:n.*1139T>G
ENST00000618395.4:c.*1139T>G ENSP00000481360.1:n.*1139T>G
NM_000093.4:c.*1139T>G NP_000084.3:n.*1139T>G
NM_001278074.1:c.*1139T>G NP_001265003.1:n.*1139T>G
NR_103451.2:n.71-23233A>C
NM_000093.5:c.*1139T>G MANE Select NP_000084.3:n.*1139T>G
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