Canonical Allele Identifier: CA1883339180

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731571G= , CM000671.2:g.134731571G=	GRCh38
NC_000009.11:g.137623417G= , CM000671.1:g.137623417G=	GRCh37
NC_000009.10:g.136763238G=	NCBI36
NG_008030.1:g.94766G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.1240G=	ENSP00000360885.4:p.Glu414=
ENST00000371817.8:c.1240G= MANE Select	ENSP00000360882.3:p.Glu414=
ENST00000371817.7:c.1240G=	ENSP00000360882.3:p.Glu414=
ENST00000618395.4:c.1240G=	ENSP00000481360.1:p.Glu414=
NM_000093.4:c.1240G=	NP_000084.3:p.Glu414=
NM_001278074.1:c.1240G=	NP_001265003.1:p.Glu414=
XR_929712.1:n.1642G=
XR_929713.1:n.1642G=
XM_017014266.2:c.1240G=	XP_016869755.1:p.Glu414=
XR_001746183.1:n.1638G=
NM_000093.5:c.1240G= MANE Select	NP_000084.3:p.Glu414=