Canonical Allele Identifier: CA5320695
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 529290
ClinVar RCV Id: RCV001562226 RCV002234470 RCV002343235 RCV003928061
dbSNP Id: rs140031713
ExAC: 9:137727029 C / T
gnomAD v2: 9-137727029-C-T
gnomAD v3: 9-134835183-C-T
gnomAD v4: 9-134835183-C-T
MyVariant Identifiers: chr9:g.137727029C>T (hg19) chr9:g.134835183C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835183C>T , CM000671.2:g.134835183C>T GRCh38
NC_000009.11:g.137727029C>T , CM000671.1:g.137727029C>T GRCh37
NC_000009.10:g.136866850C>T NCBI36
NG_008030.1:g.198378C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5349C>T ENSP00000360885.4:p.Arg1783=
ENST00000371817.8:c.5349C>T MANE Select ENSP00000360882.3:p.Arg1783=
ENST00000371817.7:c.5349C>T ENSP00000360882.3:p.Arg1783=
ENST00000371820.3:c.607C>T
ENST00000618395.4:c.5349C>T ENSP00000481360.1:p.Arg1783=
NM_000093.4:c.5349C>T NP_000084.3:p.Arg1783=
NM_001278074.1:c.5349C>T NP_001265003.1:p.Arg1783=
NR_103451.2:n.71-14974G>A
NM_000093.5:c.5349C>T MANE Select NP_000084.3:p.Arg1783=
Search 100 bp 5'
Search 100 bp 3'