Canonical Allele Identifier: CA1883373325

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822240T= , CM000671.2:g.134822240T=	GRCh38
NC_000009.11:g.137714086T= , CM000671.1:g.137714086T=	GRCh37
NC_000009.10:g.136853907T=	NCBI36
NG_008030.1:g.185435T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4608+90T=	ENSP00000360885.4:n.4608+90T=
ENST00000371817.8:c.4608+90T= MANE Select	ENSP00000360882.3:n.4608+90T=
ENST00000371817.7:c.4608+90T=	ENSP00000360882.3:n.4608+90T=
ENST00000618395.4:c.4608+90T=	ENSP00000481360.1:n.4608+90T=
NM_000093.4:c.4608+90T=	NP_000084.3:n.4608+90T=
NM_001278074.1:c.4608+90T=	NP_001265003.1:n.4608+90T=
NR_103451.2:n.71-2031A=
XR_929712.1:n.5010+90T=
XR_929713.1:n.5010+90T=
XM_017014266.2:c.4608+90T=	XP_016869755.1:n.4608+90T=
XR_001746183.1:n.5006+90T=
NM_000093.5:c.4608+90T= MANE Select	NP_000084.3:n.4608+90T=