Canonical Allele Identifier: CA322823

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 212997
• ClinVar RCV Id: RCV002229064 ; RCV002315552
• dbSNP Id: rs138396959
• ExAC: 9:137721851 C / G
• gnomAD v2: 9-137721851-C-G
• gnomAD v3: 9-134830005-C-G
• gnomAD v4: 9-134830005-C-G
• MyVariant Identifiers: chr9:g.137721851C>G (hg19) ; chr9:g.134830005C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134830005C>G , CM000671.2:g.134830005C>G	GRCh38
NC_000009.11:g.137721851C>G , CM000671.1:g.137721851C>G	GRCh37
NC_000009.10:g.136861672C>G	NCBI36
NG_008030.1:g.193200C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.5068-103C>G	ENSP00000360885.4:n.5068-103C>G
ENST00000371817.8:c.5097C>G MANE Select	ENSP00000360882.3:p.Asn1699Lys
ENST00000371817.7:c.5097C>G	ENSP00000360882.3:p.Asn1699Lys
ENST00000371820.3:c.326-103C>G
ENST00000460264.5:n.565C>G
ENST00000465877.1:n.277C>G
ENST00000618395.4:c.5068-103C>G	ENSP00000481360.1:n.5068-103C>G
NM_000093.4:c.5097C>G	NP_000084.3:p.Asn1699Lys
NM_001278074.1:c.5068-103C>G	NP_001265003.1:n.5068-103C>G
NR_103451.2:n.71-9796G>C
XR_929712.1:n.5499C>G
XR_929713.1:n.5470-103C>G
XM_017014266.2:c.5068-103C>G	XP_016869755.1:n.5068-103C>G
XR_001746183.1:n.5495C>G
NM_000093.5:c.5097C>G MANE Select	NP_000084.3:p.Asn1699Lys