Canonical Allele Identifier: CA467667118

Gene: COL5A1

Linked Data

• MyVariant Identifiers: chr9:g.137726945A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835099A>T , CM000671.2:g.134835099A>T	GRCh38
NC_000009.11:g.137726945A>T , CM000671.1:g.137726945A>T	GRCh37
NC_000009.10:g.136866766A>T	NCBI36
NG_008030.1:g.198294A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5265A>T	ENSP00000360885.4:p.Ala1755=
ENST00000371817.8:c.5265A>T MANE Select	ENSP00000360882.3:p.Ala1755=
ENST00000371817.7:c.5265A>T	ENSP00000360882.3:p.Ala1755=
ENST00000371820.3:c.523A>T
ENST00000618395.4:c.5265A>T	ENSP00000481360.1:p.Ala1755=
NM_000093.4:c.5265A>T	NP_000084.3:p.Ala1755=
NM_001278074.1:c.5265A>T	NP_001265003.1:p.Ala1755=
NR_103451.2:n.71-14890T>A
NM_000093.5:c.5265A>T MANE Select	NP_000084.3:p.Ala1755=