Canonical Allele Identifier: CA1883396662

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134842272T= , CM000671.2:g.134842272T=	GRCh38
NC_000009.11:g.137734118T= , CM000671.1:g.137734118T=	GRCh37
NC_000009.10:g.136873939T=	NCBI36
NG_008030.1:g.205467T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.5486T=	ENSP00000360885.4:p.Phe1829=
ENST00000371817.8:c.5486T= MANE Select	ENSP00000360882.3:p.Phe1829=
ENST00000371817.7:c.5486T=	ENSP00000360882.3:p.Phe1829=
ENST00000618395.4:c.5486T=	ENSP00000481360.1:p.Phe1829=
NM_000093.4:c.5486T=	NP_000084.3:p.Phe1829=
NM_001278074.1:c.5486T=	NP_001265003.1:p.Phe1829=
NR_103451.2:n.71-22063A=
NM_000093.5:c.5486T= MANE Select	NP_000084.3:p.Phe1829=