Canonical Allele Identifier: CA201108760
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2813709
ClinVar RCV Id: RCV003760857
dbSNP Id: rs1024770210

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134731528C>G , CM000671.2:g.134731528C>G GRCh38
NC_000009.11:g.137623374C>G , CM000671.1:g.137623374C>G GRCh37
NC_000009.10:g.136763195C>G NCBI36
NG_008030.1:g.94723C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1197C>G ENSP00000360885.4:p.Asp399Glu
ENST00000371817.8:c.1197C>G MANE Select ENSP00000360882.3:p.Asp399Glu
ENST00000371817.7:c.1197C>G ENSP00000360882.3:p.Asp399Glu
ENST00000618395.4:c.1197C>G ENSP00000481360.1:p.Asp399Glu
NM_000093.4:c.1197C>G NP_000084.3:p.Asp399Glu
NM_001278074.1:c.1197C>G NP_001265003.1:p.Asp399Glu
XR_929712.1:n.1599C>G
XR_929713.1:n.1599C>G
XM_017014266.2:c.1197C>G XP_016869755.1:p.Asp399Glu
XR_001746183.1:n.1595C>G
NM_000093.5:c.1197C>G MANE Select NP_000084.3:p.Asp399Glu