Canonical Allele Identifier: CA2579507318

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134834879A>T , CM000671.2:g.134834879A>T	GRCh38
NC_000009.11:g.137726725A>T , CM000671.1:g.137726725A>T	GRCh37
NC_000009.10:g.136866546A>T	NCBI36
NG_008030.1:g.198074A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.5137-92A>T	ENSP00000360885.4:n.5137-92A>T
ENST00000371817.8:c.5137-92A>T MANE Select	ENSP00000360882.3:n.5137-92A>T
ENST00000371817.7:c.5137-92A>T	ENSP00000360882.3:n.5137-92A>T
ENST00000371820.3:c.395-92A>T
ENST00000618395.4:c.5137-92A>T	ENSP00000481360.1:n.5137-92A>T
NM_000093.4:c.5137-92A>T	NP_000084.3:n.5137-92A>T
NM_001278074.1:c.5137-92A>T	NP_001265003.1:n.5137-92A>T
NR_103451.2:n.71-14670T>A
XR_929712.1:n.5821-92A>T
XR_929713.1:n.5689-92A>T
XM_017014266.2:c.*2126A>T	XP_016869755.1:n.*2126A>T
XR_001746183.1:n.7804A>T
NM_000093.5:c.5137-92A>T MANE Select	NP_000084.3:n.5137-92A>T