Canonical Allele Identifier: CA2692462637
Gene: COL5A1 HGNC NCBI

Linked Data

gnomAD v4: 9-134843169-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843169A>C , CM000671.2:g.134843169A>C GRCh38
NC_000009.11:g.137735015A>C , CM000671.1:g.137735015A>C GRCh37
NC_000009.10:g.136874836A>C NCBI36
NG_008030.1:g.206364A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*866A>C ENSP00000360885.4:n.*866A>C
ENST00000371817.8:c.*866A>C MANE Select ENSP00000360882.3:n.*866A>C
ENST00000371817.7:c.*866A>C ENSP00000360882.3:n.*866A>C
ENST00000618395.4:c.*866A>C ENSP00000481360.1:n.*866A>C
NM_000093.4:c.*866A>C NP_000084.3:n.*866A>C
NM_001278074.1:c.*866A>C NP_001265003.1:n.*866A>C
NR_103451.2:n.71-22960T>G
NM_000093.5:c.*866A>C MANE Select NP_000084.3:n.*866A>C
Search 100 bp 5'
Search 100 bp 3'