Canonical Allele Identifier: CA375460849

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 2900402
• ClinVar RCV Id: RCV003760325
• MyVariant Identifiers: chr9:g.137726998A>G (hg19) ; chr9:g.134835152A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835152A>G , CM000671.2:g.134835152A>G	GRCh38
NC_000009.11:g.137726998A>G , CM000671.1:g.137726998A>G	GRCh37
NC_000009.10:g.136866819A>G	NCBI36
NG_008030.1:g.198347A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5318A>G	ENSP00000360885.4:p.Glu1773Gly
ENST00000371817.8:c.5318A>G MANE Select	ENSP00000360882.3:p.Glu1773Gly
ENST00000371817.7:c.5318A>G	ENSP00000360882.3:p.Glu1773Gly
ENST00000371820.3:c.576A>G
ENST00000618395.4:c.5318A>G	ENSP00000481360.1:p.Glu1773Gly
NM_000093.4:c.5318A>G	NP_000084.3:p.Glu1773Gly
NM_001278074.1:c.5318A>G	NP_001265003.1:p.Glu1773Gly
NR_103451.2:n.71-14943T>C
NM_000093.5:c.5318A>G MANE Select	NP_000084.3:p.Glu1773Gly