Canonical Allele Identifier: CA5318177

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 506690
• ClinVar RCV Id: RCV001169656 ; RCV001704726 ; RCV002270728 ; RCV002270727 ; RCV002341543
• dbSNP Id: rs769694875
• ExAC: 9:137534030 C / G
• gnomAD v2: 9-137534030-C-G
• gnomAD v3: 9-134642184-C-G
• gnomAD v4: 9-134642184-C-G
• MyVariant Identifiers: chr9:g.137534030C>G (hg19) ; chr9:g.134642184C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134642184C>G , CM000671.2:g.134642184C>G	GRCh38
NC_000009.11:g.137534030C>G , CM000671.1:g.137534030C>G	GRCh37
NC_000009.10:g.136673851C>G	NCBI36
NG_008030.1:g.5379C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.-4C>G	ENSP00000360885.4:n.-4C>G
ENST00000371817.8:c.-4C>G MANE Select	ENSP00000360882.3:n.-4C>G
ENST00000371817.7:c.-4C>G	ENSP00000360882.3:n.-4C>G
ENST00000618395.4:c.-4C>G	ENSP00000481360.1:n.-4C>G
NM_000093.4:c.-4C>G	NP_000084.3:n.-4C>G
NM_001278074.1:c.-4C>G	NP_001265003.1:n.-4C>G
XR_929712.1:n.399C>G
XR_929713.1:n.399C>G
XM_017014266.2:c.-4C>G	XP_016869755.1:n.-4C>G
XR_001746183.1:n.395C>G
NM_000093.5:c.-4C>G MANE Select	NP_000084.3:n.-4C>G