Canonical Allele Identifier: CA5320670
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 255097
ClinVar RCV Id: RCV000254377 RCV003144174 RCV003593944
dbSNP Id: rs753339980
ExAC: 9:137726886 G / A
gnomAD v2: 9-137726886-G-A
gnomAD v3: 9-134835040-G-A
gnomAD v4: 9-134835040-G-A
MyVariant Identifiers: chr9:g.137726886G>A (hg19) chr9:g.134835040G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835040G>A , CM000671.2:g.134835040G>A GRCh38
NC_000009.11:g.137726886G>A , CM000671.1:g.137726886G>A GRCh37
NC_000009.10:g.136866707G>A NCBI36
NG_008030.1:g.198235G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5206G>A ENSP00000360885.4:p.Ala1736Thr
ENST00000371817.8:c.5206G>A MANE Select ENSP00000360882.3:p.Ala1736Thr
ENST00000371817.7:c.5206G>A ENSP00000360882.3:p.Ala1736Thr
ENST00000371820.3:c.464G>A
ENST00000618395.4:c.5206G>A ENSP00000481360.1:p.Ala1736Thr
NM_000093.4:c.5206G>A NP_000084.3:p.Ala1736Thr
NM_001278074.1:c.5206G>A NP_001265003.1:p.Ala1736Thr
NR_103451.2:n.71-14831C>T
XR_929712.1:n.5890G>A
XR_929713.1:n.5758G>A
NM_000093.5:c.5206G>A MANE Select NP_000084.3:p.Ala1736Thr
Search 100 bp 5'
Search 100 bp 3'