Canonical Allele Identifier: CA1883386801

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134824817G= , CM000671.2:g.134824817G=	GRCh38
NC_000009.11:g.137716663G= , CM000671.1:g.137716663G=	GRCh37
NC_000009.10:g.136856484G=	NCBI36
NG_008030.1:g.188012G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000093.5:c.4916G= MANE Select	NP_000084.3:p.Cys1639=
ENST00000371817.8:c.4916G= MANE Select	ENSP00000360882.3:p.Cys1639=
NM_000093.4:c.4916G=	NP_000084.3:p.Cys1639=
NM_001278074.1:c.4916G=	NP_001265003.1:p.Cys1639=
NR_103451.2:n.71-4608C=
ENST00000371817.7:c.4916G=	ENSP00000360882.3:p.Cys1639=
ENST00000371820.3:c.174G=
ENST00000371820.4:c.4916G=	ENSP00000360885.4:p.Cys1639=
ENST00000460264.5:n.384G=
ENST00000465877.1:n.96G=
ENST00000618395.4:c.4916G=	ENSP00000481360.1:p.Cys1639=
XM_017014266.2:c.4916G=	XP_016869755.1:p.Cys1639=
XR_001746183.1:n.5314G=
XR_929712.1:n.5318G=
XR_929713.1:n.5318G=