Canonical Allele Identifier: CA5318591
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 255101
ClinVar RCV Id: RCV000830145 RCV000242645 RCV002270133 RCV002270134
dbSNP Id: rs3128598
ExAC: 9:137622039 G / A
gnomAD v2: 9-137622039-G-A
gnomAD v3: 9-134730193-G-A
gnomAD v4: 9-134730193-G-A
MyVariant Identifiers: chr9:g.137622039G>A (hg19) chr9:g.134730193G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134730193G>A , CM000671.2:g.134730193G>A GRCh38
NC_000009.11:g.137622039G>A , CM000671.1:g.137622039G>A GRCh37
NC_000009.10:g.136761860G>A NCBI36
NG_008030.1:g.93388G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.925-43G>A ENSP00000360885.4:n.925-43G>A
ENST00000371817.8:c.925-43G>A MANE Select ENSP00000360882.3:n.925-43G>A
ENST00000371817.7:c.925-43G>A ENSP00000360882.3:n.925-43G>A
ENST00000618395.4:c.925-43G>A ENSP00000481360.1:n.925-43G>A
NM_000093.4:c.925-43G>A NP_000084.3:n.925-43G>A
NM_001278074.1:c.925-43G>A NP_001265003.1:n.925-43G>A
XR_929712.1:n.1327-43G>A
XR_929713.1:n.1327-43G>A
XM_017014266.2:c.925-43G>A XP_016869755.1:n.925-43G>A
XR_001746183.1:n.1323-43G>A
NM_000093.5:c.925-43G>A MANE Select NP_000084.3:n.925-43G>A
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