Canonical Allele Identifier: CA375460290
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1421072
ClinVar RCV Id: RCV001923665
dbSNP Id: rs1243519195

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134834993G>A , CM000671.2:g.134834993G>A GRCh38
NC_000009.11:g.137726839G>A , CM000671.1:g.137726839G>A GRCh37
NC_000009.10:g.136866660G>A NCBI36
NG_008030.1:g.198188G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5159G>A ENSP00000360885.4:p.Gly1720Asp
ENST00000371817.8:c.5159G>A MANE Select ENSP00000360882.3:p.Gly1720Asp
ENST00000371817.7:c.5159G>A ENSP00000360882.3:p.Gly1720Asp
ENST00000371820.3:c.417G>A
ENST00000618395.4:c.5159G>A ENSP00000481360.1:p.Gly1720Asp
NM_000093.4:c.5159G>A NP_000084.3:p.Gly1720Asp
NM_001278074.1:c.5159G>A NP_001265003.1:p.Gly1720Asp
NR_103451.2:n.71-14784C>T
XR_929712.1:n.5843G>A
XR_929713.1:n.5711G>A
NM_000093.5:c.5159G>A MANE Select NP_000084.3:p.Gly1720Asp