Canonical Allele Identifier: CA16612796
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 409094
dbSNP Id: rs1060502248

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134780147G>A , CM000671.2:g.134780147G>A GRCh38
NC_000009.11:g.137671993G>A , CM000671.1:g.137671993G>A GRCh37
NC_000009.10:g.136811814G>A NCBI36
NG_008030.1:g.143342G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.2430+1G>A ENSP00000360885.4:n.2430+1G>A
ENST00000371817.8:c.2430+1G>A MANE Select ENSP00000360882.3:n.2430+1G>A
ENST00000371817.7:c.2430+1G>A ENSP00000360882.3:n.2430+1G>A
ENST00000618395.4:c.2430+1G>A ENSP00000481360.1:n.2430+1G>A
NM_000093.4:c.2430+1G>A NP_000084.3:n.2430+1G>A
NM_001278074.1:c.2430+1G>A NP_001265003.1:n.2430+1G>A
XR_929712.1:n.2832+1G>A
XR_929713.1:n.2832+1G>A
XM_017014266.2:c.2430+1G>A XP_016869755.1:n.2430+1G>A
XR_001746183.1:n.2828+1G>A
NM_000093.5:c.2430+1G>A MANE Select NP_000084.3:n.2430+1G>A