Canonical Allele Identifier: CA658797353

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 514990
• ClinVar RCV Id: RCV000599719
• dbSNP Id: rs1554807494
• MyVariant Identifiers: chr9:g.137714003A>T (hg19) ; chr9:g.134822157A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822157A>T , CM000671.2:g.134822157A>T	GRCh38
NC_000009.11:g.137714003A>T , CM000671.1:g.137714003A>T	GRCh37
NC_000009.10:g.136853824A>T	NCBI36
NG_008030.1:g.185352A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4608+7A>T	ENSP00000360885.4:n.4608+7A>T
ENST00000371817.8:c.4608+7A>T MANE Select	ENSP00000360882.3:n.4608+7A>T
ENST00000371817.7:c.4608+7A>T	ENSP00000360882.3:n.4608+7A>T
ENST00000618395.4:c.4608+7A>T	ENSP00000481360.1:n.4608+7A>T
NM_000093.4:c.4608+7A>T	NP_000084.3:n.4608+7A>T
NM_001278074.1:c.4608+7A>T	NP_001265003.1:n.4608+7A>T
NR_103451.2:n.71-1948T>A
XR_929712.1:n.5010+7A>T
XR_929713.1:n.5010+7A>T
XM_017014266.2:c.4608+7A>T	XP_016869755.1:n.4608+7A>T
XR_001746183.1:n.5006+7A>T
NM_000093.5:c.4608+7A>T MANE Select	NP_000084.3:n.4608+7A>T