Canonical Allele Identifier: CA5318972

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 377721
• ClinVar RCV Id: RCV000419740 ; RCV002230235 ; RCV003932556 ; RCV002270248
• dbSNP Id: rs371941850
• ExAC: 9:137646112 C / A
• gnomAD v2: 9-137646112-C-A
• gnomAD v3: 9-134754266-C-A
• gnomAD v4: 9-134754266-C-A
• MyVariant Identifiers: chr9:g.137646112C>A (hg19) ; chr9:g.134754266C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134754266C>A , CM000671.2:g.134754266C>A	GRCh38
NC_000009.11:g.137646112C>A , CM000671.1:g.137646112C>A	GRCh37
NC_000009.10:g.136785933C>A	NCBI36
NG_008030.1:g.117461C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1774-7C>A	ENSP00000360885.4:n.1774-7C>A
ENST00000371817.8:c.1774-7C>A MANE Select	ENSP00000360882.3:n.1774-7C>A
ENST00000371817.7:c.1774-7C>A	ENSP00000360882.3:n.1774-7C>A
ENST00000618395.4:c.1774-7C>A	ENSP00000481360.1:n.1774-7C>A
NM_000093.4:c.1774-7C>A	NP_000084.3:n.1774-7C>A
NM_001278074.1:c.1774-7C>A	NP_001265003.1:n.1774-7C>A
XR_929712.1:n.2176-7C>A
XR_929713.1:n.2176-7C>A
XM_017014266.2:c.1774-7C>A	XP_016869755.1:n.1774-7C>A
XR_001746183.1:n.2172-7C>A
NM_000093.5:c.1774-7C>A MANE Select	NP_000084.3:n.1774-7C>A