Canonical Allele Identifier: CA1883392990

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835067C= , CM000671.2:g.134835067C=	GRCh38
NC_000009.11:g.137726913C= , CM000671.1:g.137726913C=	GRCh37
NC_000009.10:g.136866734C=	NCBI36
NG_008030.1:g.198262C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5233C=	ENSP00000360885.4:p.His1745=
ENST00000371817.8:c.5233C= MANE Select	ENSP00000360882.3:p.His1745=
ENST00000371817.7:c.5233C=	ENSP00000360882.3:p.His1745=
ENST00000371820.3:c.491C=
ENST00000618395.4:c.5233C=	ENSP00000481360.1:p.His1745=
NM_000093.4:c.5233C=	NP_000084.3:p.His1745=
NM_001278074.1:c.5233C=	NP_001265003.1:p.His1745=
NR_103451.2:n.71-14858G=
NM_000093.5:c.5233C= MANE Select	NP_000084.3:p.His1745=