Canonical Allele Identifier: CA2531579458

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843109G>T , CM000671.2:g.134843109G>T	GRCh38
NC_000009.11:g.137734955G>T , CM000671.1:g.137734955G>T	GRCh37
NC_000009.10:g.136874776G>T	NCBI36
NG_008030.1:g.206304G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.*806G>T	ENSP00000360885.4:n.*806G>T
ENST00000371817.8:c.*806G>T MANE Select	ENSP00000360882.3:n.*806G>T
ENST00000371817.7:c.*806G>T	ENSP00000360882.3:n.*806G>T
ENST00000618395.4:c.*806G>T	ENSP00000481360.1:n.*806G>T
NM_000093.4:c.*806G>T	NP_000084.3:n.*806G>T
NM_001278074.1:c.*806G>T	NP_001265003.1:n.*806G>T
NR_103451.2:n.71-22900C>A
NM_000093.5:c.*806G>T MANE Select	NP_000084.3:n.*806G>T