Canonical Allele Identifier: CA375460397

Gene: COL5A1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5189T>G	ENSP00000360885.4:p.Phe1730Cys
ENST00000371817.8:c.5189T>G MANE Select	ENSP00000360882.3:p.Phe1730Cys
ENST00000371817.7:c.5189T>G	ENSP00000360882.3:p.Phe1730Cys
ENST00000371820.3:c.447T>G
ENST00000618395.4:c.5189T>G	ENSP00000481360.1:p.Phe1730Cys
NM_000093.4:c.5189T>G	NP_000084.3:p.Phe1730Cys
NM_001278074.1:c.5189T>G	NP_001265003.1:p.Phe1730Cys
NR_103451.2:n.71-14814A>C
XR_929712.1:n.5873T>G
XR_929713.1:n.5741T>G
NM_000093.5:c.5189T>G MANE Select	NP_000084.3:p.Phe1730Cys