Canonical Allele Identifier: CA5318924

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 255056
• ClinVar RCV Id: RCV000246505 ; RCV002270089 ; RCV000830148 ; RCV002270088
• dbSNP Id: rs10123014
• ExAC: 9:137645648 T / C
• gnomAD v2: 9-137645648-T-C
• gnomAD v3: 9-134753802-T-C
• gnomAD v4: 9-134753802-T-C
• MyVariant Identifiers: chr9:g.137645648T>C (hg19) ; chr9:g.134753802T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134753802T>C , CM000671.2:g.134753802T>C	GRCh38
NC_000009.11:g.137645648T>C , CM000671.1:g.137645648T>C	GRCh37
NC_000009.10:g.136785469T>C	NCBI36
NG_008030.1:g.116997T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1720-48T>C	ENSP00000360885.4:n.1720-48T>C
ENST00000371817.8:c.1720-48T>C MANE Select	ENSP00000360882.3:n.1720-48T>C
ENST00000371817.7:c.1720-48T>C	ENSP00000360882.3:n.1720-48T>C
ENST00000618395.4:c.1720-48T>C	ENSP00000481360.1:n.1720-48T>C
NM_000093.4:c.1720-48T>C	NP_000084.3:n.1720-48T>C
NM_001278074.1:c.1720-48T>C	NP_001265003.1:n.1720-48T>C
XR_929712.1:n.2122-48T>C
XR_929713.1:n.2122-48T>C
XM_017014266.2:c.1720-48T>C	XP_016869755.1:n.1720-48T>C
XR_001746183.1:n.2118-48T>C
NM_000093.5:c.1720-48T>C MANE Select	NP_000084.3:n.1720-48T>C