Canonical Allele Identifier: CA467667205

Gene: COL5A1

Linked Data

• MyVariant Identifiers: chr9:g.137726969C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835123C>G , CM000671.2:g.134835123C>G	GRCh38
NC_000009.11:g.137726969C>G , CM000671.1:g.137726969C>G	GRCh37
NC_000009.10:g.136866790C>G	NCBI36
NG_008030.1:g.198318C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5289C>G	ENSP00000360885.4:p.Ala1763=
ENST00000371817.8:c.5289C>G MANE Select	ENSP00000360882.3:p.Ala1763=
ENST00000371817.7:c.5289C>G	ENSP00000360882.3:p.Ala1763=
ENST00000371820.3:c.547C>G
ENST00000618395.4:c.5289C>G	ENSP00000481360.1:p.Ala1763=
NM_000093.4:c.5289C>G	NP_000084.3:p.Ala1763=
NM_001278074.1:c.5289C>G	NP_001265003.1:p.Ala1763=
NR_103451.2:n.71-14914G>C
NM_000093.5:c.5289C>G MANE Select	NP_000084.3:p.Ala1763=