Canonical Allele Identifier: CA1883386730

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134824666G= , CM000671.2:g.134824666G=	GRCh38
NC_000009.11:g.137716512G= , CM000671.1:g.137716512G=	GRCh37
NC_000009.10:g.136856333G=	NCBI36
NG_008030.1:g.187861G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000093.5:c.4765G= MANE Select	NP_000084.3:p.Ala1589=
ENST00000371817.8:c.4765G= MANE Select	ENSP00000360882.3:p.Ala1589=
NM_000093.4:c.4765G=	NP_000084.3:p.Ala1589=
NM_001278074.1:c.4765G=	NP_001265003.1:p.Ala1589=
NR_103451.2:n.71-4457C=
ENST00000371817.7:c.4765G=	ENSP00000360882.3:p.Ala1589=
ENST00000371820.3:c.23G=
ENST00000371820.4:c.4765G=	ENSP00000360885.4:p.Ala1589=
ENST00000460264.5:n.233G=
ENST00000618395.4:c.4765G=	ENSP00000481360.1:p.Ala1589=
XM_017014266.2:c.4765G=	XP_016869755.1:p.Ala1589=
XR_001746183.1:n.5163G=
XR_929712.1:n.5167G=
XR_929713.1:n.5167G=