Canonical Allele Identifier: CA2692462599
Gene: COL5A1 HGNC NCBI

Linked Data

gnomAD v4: 9-134843063-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843063T>C , CM000671.2:g.134843063T>C GRCh38
NC_000009.11:g.137734909T>C , CM000671.1:g.137734909T>C GRCh37
NC_000009.10:g.136874730T>C NCBI36
NG_008030.1:g.206258T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*760T>C ENSP00000360885.4:n.*760T>C
ENST00000371817.8:c.*760T>C MANE Select ENSP00000360882.3:n.*760T>C
ENST00000371817.7:c.*760T>C ENSP00000360882.3:n.*760T>C
ENST00000618395.4:c.*760T>C ENSP00000481360.1:n.*760T>C
NM_000093.4:c.*760T>C NP_000084.3:n.*760T>C
NM_001278074.1:c.*760T>C NP_001265003.1:n.*760T>C
NR_103451.2:n.71-22854A>G
NM_000093.5:c.*760T>C MANE Select NP_000084.3:n.*760T>C
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