Canonical Allele Identifier: CA375460427

Gene: COL5A1

Linked Data

• MyVariant Identifiers: chr9:g.137726887C>A (hg19) ; chr9:g.134835041C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835041C>A , CM000671.2:g.134835041C>A	GRCh38
NC_000009.11:g.137726887C>A , CM000671.1:g.137726887C>A	GRCh37
NC_000009.10:g.136866708C>A	NCBI36
NG_008030.1:g.198236C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5207C>A	ENSP00000360885.4:p.Ala1736Asp
ENST00000371817.8:c.5207C>A MANE Select	ENSP00000360882.3:p.Ala1736Asp
ENST00000371817.7:c.5207C>A	ENSP00000360882.3:p.Ala1736Asp
ENST00000371820.3:c.465C>A
ENST00000618395.4:c.5207C>A	ENSP00000481360.1:p.Ala1736Asp
NM_000093.4:c.5207C>A	NP_000084.3:p.Ala1736Asp
NM_001278074.1:c.5207C>A	NP_001265003.1:p.Ala1736Asp
NR_103451.2:n.71-14832G>T
XR_929712.1:n.5891C>A
XR_929713.1:n.5759C>A
NM_000093.5:c.5207C>A MANE Select	NP_000084.3:p.Ala1736Asp