Canonical Allele Identifier: CA10582635
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 236997
ClinVar RCV Id: RCV000999270 RCV001420510 RCV002229642
dbSNP Id: rs878853652
gnomAD v3: 9-134750587-G-A
gnomAD v4: 9-134750587-G-A
MyVariant Identifiers: chr9:g.137642433G>A (hg19) chr9:g.134750587G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134750587G>A , CM000671.2:g.134750587G>A GRCh38
NC_000009.11:g.137642433G>A , CM000671.1:g.137642433G>A GRCh37
NC_000009.10:g.136782254G>A NCBI36
NG_008030.1:g.113782G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1540G>A ENSP00000360885.4:p.Gly514Ser
ENST00000371817.8:c.1540G>A MANE Select ENSP00000360882.3:p.Gly514Ser
ENST00000371817.7:c.1540G>A ENSP00000360882.3:p.Gly514Ser
ENST00000618395.4:c.1540G>A ENSP00000481360.1:p.Gly514Ser
NM_000093.4:c.1540G>A NP_000084.3:p.Gly514Ser
NM_001278074.1:c.1540G>A NP_001265003.1:p.Gly514Ser
XR_929712.1:n.1942G>A
XR_929713.1:n.1942G>A
XM_017014266.2:c.1540G>A XP_016869755.1:p.Gly514Ser
XR_001746183.1:n.1938G>A
NM_000093.5:c.1540G>A MANE Select NP_000084.3:p.Gly514Ser
Search 100 bp 5'
Search 100 bp 3'