Canonical Allele Identifier: CA2786219013

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843190T>G , CM000671.2:g.134843190T>G	GRCh38
NC_000009.11:g.137735036T>G , CM000671.1:g.137735036T>G	GRCh37
NC_000009.10:g.136874857T>G	NCBI36
NG_008030.1:g.206385T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.*887T>G	ENSP00000360885.4:n.*887T>G
ENST00000371817.8:c.*887T>G MANE Select	ENSP00000360882.3:n.*887T>G
ENST00000371817.7:c.*887T>G	ENSP00000360882.3:n.*887T>G
ENST00000618395.4:c.*887T>G	ENSP00000481360.1:n.*887T>G
NM_000093.4:c.*887T>G	NP_000084.3:n.*887T>G
NM_001278074.1:c.*887T>G	NP_001265003.1:n.*887T>G
NR_103451.2:n.71-22981A>C
NM_000093.5:c.*887T>G MANE Select	NP_000084.3:n.*887T>G