Canonical Allele Identifier: CA1883396793

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134842361C= , CM000671.2:g.134842361C=	GRCh38
NC_000009.11:g.137734207C= , CM000671.1:g.137734207C=	GRCh37
NC_000009.10:g.136874028C=	NCBI36
NG_008030.1:g.205556C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*58C=	ENSP00000360885.4:n.*58C=
ENST00000371817.8:c.*58C= MANE Select	ENSP00000360882.3:n.*58C=
ENST00000371817.7:c.*58C=	ENSP00000360882.3:n.*58C=
ENST00000618395.4:c.*58C=	ENSP00000481360.1:n.*58C=
NM_000093.4:c.*58C=	NP_000084.3:n.*58C=
NM_001278074.1:c.*58C=	NP_001265003.1:n.*58C=
NR_103451.2:n.71-22152G=
NM_000093.5:c.*58C= MANE Select	NP_000084.3:n.*58C=