Canonical Allele Identifier: CA860877880

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 2718219
• ClinVar RCV Id: RCV003595259
• dbSNP Id: rs200797820
• gnomAD v4: 9-134822169-C-G
• MyVariant Identifiers: chr9:g.137714015C>G (hg19) ; chr9:g.134822169C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822169C>G , CM000671.2:g.134822169C>G	GRCh38
NC_000009.11:g.137714015C>G , CM000671.1:g.137714015C>G	GRCh37
NC_000009.10:g.136853836C>G	NCBI36
NG_008030.1:g.185364C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4608+19C>G	ENSP00000360885.4:n.4608+19C>G
ENST00000371817.8:c.4608+19C>G MANE Select	ENSP00000360882.3:n.4608+19C>G
ENST00000371817.7:c.4608+19C>G	ENSP00000360882.3:n.4608+19C>G
ENST00000618395.4:c.4608+19C>G	ENSP00000481360.1:n.4608+19C>G
NM_000093.4:c.4608+19C>G	NP_000084.3:n.4608+19C>G
NM_001278074.1:c.4608+19C>G	NP_001265003.1:n.4608+19C>G
NR_103451.2:n.71-1960G>C
XR_929712.1:n.5010+19C>G
XR_929713.1:n.5010+19C>G
XM_017014266.2:c.4608+19C>G	XP_016869755.1:n.4608+19C>G
XR_001746183.1:n.5006+19C>G
NM_000093.5:c.4608+19C>G MANE Select	NP_000084.3:n.4608+19C>G