Canonical Allele Identifier: CA320339
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 213067
ClinVar RCV Id: RCV000195957
dbSNP Id: rs863223483
MyVariant Identifiers: chr9:g.137734118T>G (hg19) chr9:g.134842272T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842272T>G , CM000671.2:g.134842272T>G GRCh38
NC_000009.11:g.137734118T>G , CM000671.1:g.137734118T>G GRCh37
NC_000009.10:g.136873939T>G NCBI36
NG_008030.1:g.205467T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.5486T>G ENSP00000360885.4:p.Phe1829Cys
ENST00000371817.8:c.5486T>G MANE Select ENSP00000360882.3:p.Phe1829Cys
ENST00000371817.7:c.5486T>G ENSP00000360882.3:p.Phe1829Cys
ENST00000618395.4:c.5486T>G ENSP00000481360.1:p.Phe1829Cys
NM_000093.4:c.5486T>G NP_000084.3:p.Phe1829Cys
NM_001278074.1:c.5486T>G NP_001265003.1:p.Phe1829Cys
NR_103451.2:n.71-22063A>C
NM_000093.5:c.5486T>G MANE Select NP_000084.3:p.Phe1829Cys
Search 100 bp 5'
Search 100 bp 3'