Canonical Allele Identifier: CA375457981

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 851542
• ClinVar RCV Id: RCV001759803 ; RCV002240338
• dbSNP Id: rs1378626783
• gnomAD v4: 9-134822110-C-A
• MyVariant Identifiers: chr9:g.137713956C>A (hg19) ; chr9:g.134822110C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822110C>A , CM000671.2:g.134822110C>A	GRCh38
NC_000009.11:g.137713956C>A , CM000671.1:g.137713956C>A	GRCh37
NC_000009.10:g.136853777C>A	NCBI36
NG_008030.1:g.185305C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4568C>A	ENSP00000360885.4:p.Pro1523His
ENST00000371817.8:c.4568C>A MANE Select	ENSP00000360882.3:p.Pro1523His
ENST00000371817.7:c.4568C>A	ENSP00000360882.3:p.Pro1523His
ENST00000618395.4:c.4568C>A	ENSP00000481360.1:p.Pro1523His
NM_000093.4:c.4568C>A	NP_000084.3:p.Pro1523His
NM_001278074.1:c.4568C>A	NP_001265003.1:p.Pro1523His
NR_103451.2:n.71-1901G>T
XR_929712.1:n.4970C>A
XR_929713.1:n.4970C>A
XM_017014266.2:c.4568C>A	XP_016869755.1:p.Pro1523His
XR_001746183.1:n.4966C>A
NM_000093.5:c.4568C>A MANE Select	NP_000084.3:p.Pro1523His