Canonical Allele Identifier: CA320871
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 213037
ClinVar RCV Id: RCV000196460 RCV002228857 RCV002399720
dbSNP Id: rs375762619
ExAC: 9:137642640 G / A
gnomAD v2: 9-137642640-G-A
gnomAD v3: 9-134750794-G-A
gnomAD v4: 9-134750794-G-A
COSMIC: COSM3214266
MyVariant Identifiers: chr9:g.137642640G>A (hg19) chr9:g.134750794G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134750794G>A , CM000671.2:g.134750794G>A GRCh38
NC_000009.11:g.137642640G>A , CM000671.1:g.137642640G>A GRCh37
NC_000009.10:g.136782461G>A NCBI36
NG_008030.1:g.113989G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1574G>A ENSP00000360885.4:p.Arg525Gln
ENST00000371817.8:c.1574G>A MANE Select ENSP00000360882.3:p.Arg525Gln
ENST00000371817.7:c.1574G>A ENSP00000360882.3:p.Arg525Gln
ENST00000618395.4:c.1574G>A ENSP00000481360.1:p.Arg525Gln
NM_000093.4:c.1574G>A NP_000084.3:p.Arg525Gln
NM_001278074.1:c.1574G>A NP_001265003.1:p.Arg525Gln
XR_929712.1:n.1976G>A
XR_929713.1:n.1976G>A
XM_017014266.2:c.1574G>A XP_016869755.1:p.Arg525Gln
XR_001746183.1:n.1972G>A
NM_000093.5:c.1574G>A MANE Select NP_000084.3:p.Arg525Gln
Search 100 bp 5'
Search 100 bp 3'