Canonical Allele Identifier: CA375460395

Gene: COL5A1

Linked Data

• MyVariant Identifiers: chr9:g.137726869T>A (hg19) ; chr9:g.134835023T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835023T>A , CM000671.2:g.134835023T>A	GRCh38
NC_000009.11:g.137726869T>A , CM000671.1:g.137726869T>A	GRCh37
NC_000009.10:g.136866690T>A	NCBI36
NG_008030.1:g.198218T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5189T>A	ENSP00000360885.4:p.Phe1730Tyr
ENST00000371817.8:c.5189T>A MANE Select	ENSP00000360882.3:p.Phe1730Tyr
ENST00000371817.7:c.5189T>A	ENSP00000360882.3:p.Phe1730Tyr
ENST00000371820.3:c.447T>A
ENST00000618395.4:c.5189T>A	ENSP00000481360.1:p.Phe1730Tyr
NM_000093.4:c.5189T>A	NP_000084.3:p.Phe1730Tyr
NM_001278074.1:c.5189T>A	NP_001265003.1:p.Phe1730Tyr
NR_103451.2:n.71-14814A>T
XR_929712.1:n.5873T>A
XR_929713.1:n.5741T>A
NM_000093.5:c.5189T>A MANE Select	NP_000084.3:p.Phe1730Tyr