Canonical Allele Identifier: CA1883345854

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750867T= , CM000671.2:g.134750867T=	GRCh38
NC_000009.11:g.137642713T= , CM000671.1:g.137642713T=	GRCh37
NC_000009.10:g.136782534T=	NCBI36
NG_008030.1:g.114062T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1647T=	ENSP00000360885.4:p.Ile549=
ENST00000371817.8:c.1647T= MANE Select	ENSP00000360882.3:p.Ile549=
ENST00000371817.7:c.1647T=	ENSP00000360882.3:p.Ile549=
ENST00000618395.4:c.1647T=	ENSP00000481360.1:p.Ile549=
NM_000093.4:c.1647T=	NP_000084.3:p.Ile549=
NM_001278074.1:c.1647T=	NP_001265003.1:p.Ile549=
XR_929712.1:n.2049T=
XR_929713.1:n.2049T=
XM_017014266.2:c.1647T=	XP_016869755.1:p.Ile549=
XR_001746183.1:n.2045T=
NM_000093.5:c.1647T= MANE Select	NP_000084.3:p.Ile549=