Canonical Allele Identifier: CA281069
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17189
ClinVar RCV Id: RCV000018729
dbSNP Id: rs121912932
MyVariant Identifiers: chr9:g.137711981G>A (hg19) chr9:g.134820135G>A (hg38)
PubMed: PMID:10602121 PMID:10946364
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134820135G>A , CM000671.2:g.134820135G>A GRCh38
NC_000009.11:g.137711981G>A , CM000671.1:g.137711981G>A GRCh37
NC_000009.10:g.136851802G>A NCBI36
NG_008030.1:g.183330G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.4466G>A ENSP00000360885.4:p.Gly1489Glu
ENST00000371817.8:c.4466G>A MANE Select ENSP00000360882.3:p.Gly1489Glu
ENST00000371817.7:c.4466G>A ENSP00000360882.3:p.Gly1489Glu
ENST00000618395.4:c.4466G>A ENSP00000481360.1:p.Gly1489Glu
NM_000093.4:c.4466G>A NP_000084.3:p.Gly1489Glu
NM_001278074.1:c.4466G>A NP_001265003.1:p.Gly1489Glu
NR_103451.2:n.145C>T
XR_929712.1:n.4868G>A
XR_929713.1:n.4868G>A
XM_017014266.2:c.4466G>A XP_016869755.1:p.Gly1489Glu
XR_001746183.1:n.4864G>A
NM_000093.5:c.4466G>A MANE Select NP_000084.3:p.Gly1489Glu
Search 100 bp 5'
Search 100 bp 3'