Canonical Allele Identifier: CA5319467

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 255066
• ClinVar RCV Id: RCV000832661 ; RCV002270105 ; RCV000252019 ; RCV002270104
• dbSNP Id: rs45497895
• ExAC: 9:137677796 G / A
• gnomAD v2: 9-137677796-G-A
• gnomAD v3: 9-134785950-G-A
• gnomAD v4: 9-134785950-G-A
• MyVariant Identifiers: chr9:g.137677796G>A (hg19) ; chr9:g.134785950G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134785950G>A , CM000671.2:g.134785950G>A	GRCh38
NC_000009.11:g.137677796G>A , CM000671.1:g.137677796G>A	GRCh37
NC_000009.10:g.136817617G>A	NCBI36
NG_008030.1:g.149145G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.2593-45G>A	ENSP00000360885.4:n.2593-45G>A
ENST00000371817.8:c.2593-45G>A MANE Select	ENSP00000360882.3:n.2593-45G>A
ENST00000371817.7:c.2593-45G>A	ENSP00000360882.3:n.2593-45G>A
ENST00000618395.4:c.2593-45G>A	ENSP00000481360.1:n.2593-45G>A
NM_000093.4:c.2593-45G>A	NP_000084.3:n.2593-45G>A
NM_001278074.1:c.2593-45G>A	NP_001265003.1:n.2593-45G>A
XR_929712.1:n.2995-45G>A
XR_929713.1:n.2995-45G>A
XM_017014266.2:c.2593-45G>A	XP_016869755.1:n.2593-45G>A
XR_001746183.1:n.2991-45G>A
NM_000093.5:c.2593-45G>A MANE Select	NP_000084.3:n.2593-45G>A