Canonical Allele Identifier: CA16042686
Gene: COL5A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372825
ClinVar RCV Id: RCV000413639
dbSNP Id: rs1057518004

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842259C>T , CM000671.2:g.134842259C>T GRCh38
NC_000009.10:g.136873926C>T NCBI36
NC_000009.11:g.137734105C>T , CM000671.1:g.137734105C>T GRCh37
NG_008030.1:g.205454C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371817.7:c.5473C>T ENSP00000360882.3:p.Gln1825Ter
ENST00000618395.4:c.5473C>T ENSP00000481360.1:p.Gln1825Ter
NM_000093.4:c.5473C>T VV NP_000084.3:p.Gln1825Ter
NM_001278074.1:c.5473C>T VV NP_001265003.1:p.Gln1825Ter
NR_103451.2:n.71-22050G>A