Canonical Allele Identifier: CA467668290
Gene: COL5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.137734116A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842270A>C , CM000671.2:g.134842270A>C GRCh38
NC_000009.11:g.137734116A>C , CM000671.1:g.137734116A>C GRCh37
NC_000009.10:g.136873937A>C NCBI36
NG_008030.1:g.205465A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.5484A>C ENSP00000360885.4:p.Gly1828=
ENST00000371817.8:c.5484A>C MANE Select ENSP00000360882.3:p.Gly1828=
ENST00000371817.7:c.5484A>C ENSP00000360882.3:p.Gly1828=
ENST00000618395.4:c.5484A>C ENSP00000481360.1:p.Gly1828=
NM_000093.4:c.5484A>C NP_000084.3:p.Gly1828=
NM_001278074.1:c.5484A>C NP_001265003.1:p.Gly1828=
NR_103451.2:n.71-22061T>G
NM_000093.5:c.5484A>C MANE Select NP_000084.3:p.Gly1828=
Search 100 bp 5'
Search 100 bp 3'