Canonical Allele Identifier: CA375460740
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1371386
ClinVar RCV Id: RCV001864527
dbSNP Id: rs2132925845
MyVariant Identifiers: chr9:g.137726971T>A (hg19) chr9:g.134835125T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835125T>A , CM000671.2:g.134835125T>A GRCh38
NC_000009.11:g.137726971T>A , CM000671.1:g.137726971T>A GRCh37
NC_000009.10:g.136866792T>A NCBI36
NG_008030.1:g.198320T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5291T>A ENSP00000360885.4:p.Leu1764His
ENST00000371817.8:c.5291T>A MANE Select ENSP00000360882.3:p.Leu1764His
ENST00000371817.7:c.5291T>A ENSP00000360882.3:p.Leu1764His
ENST00000371820.3:c.549T>A
ENST00000618395.4:c.5291T>A ENSP00000481360.1:p.Leu1764His
NM_000093.4:c.5291T>A NP_000084.3:p.Leu1764His
NM_001278074.1:c.5291T>A NP_001265003.1:p.Leu1764His
NR_103451.2:n.71-14916A>T
NM_000093.5:c.5291T>A MANE Select NP_000084.3:p.Leu1764His
Search 100 bp 5'
Search 100 bp 3'