Canonical Allele Identifier: CA1883397604
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1830156067
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843302G>C , CM000671.2:g.134843302G>C GRCh38
NC_000009.11:g.137735148G>C , CM000671.1:g.137735148G>C GRCh37
NC_000009.10:g.136874969G>C NCBI36
NG_008030.1:g.206497G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*999G>C ENSP00000360885.4:n.*999G>C
ENST00000371817.8:c.*999G>C MANE Select ENSP00000360882.3:n.*999G>C
ENST00000371817.7:c.*999G>C ENSP00000360882.3:n.*999G>C
ENST00000618395.4:c.*999G>C ENSP00000481360.1:n.*999G>C
NM_000093.4:c.*999G>C NP_000084.3:n.*999G>C
NM_001278074.1:c.*999G>C NP_001265003.1:n.*999G>C
NR_103451.2:n.71-23093C>G
NM_000093.5:c.*999G>C MANE Select NP_000084.3:n.*999G>C
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