Canonical Allele Identifier: CA2786219014

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843200T>G , CM000671.2:g.134843200T>G	GRCh38
NC_000009.11:g.137735046T>G , CM000671.1:g.137735046T>G	GRCh37
NC_000009.10:g.136874867T>G	NCBI36
NG_008030.1:g.206395T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*897T>G	ENSP00000360885.4:n.*897T>G
ENST00000371817.8:c.*897T>G MANE Select	ENSP00000360882.3:n.*897T>G
ENST00000371817.7:c.*897T>G	ENSP00000360882.3:n.*897T>G
ENST00000618395.4:c.*897T>G	ENSP00000481360.1:n.*897T>G
NM_000093.4:c.*897T>G	NP_000084.3:n.*897T>G
NM_001278074.1:c.*897T>G	NP_001265003.1:n.*897T>G
NR_103451.2:n.71-22991A>C
NM_000093.5:c.*897T>G MANE Select	NP_000084.3:n.*897T>G