Canonical Allele Identifier: CA2450721573

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694820G= , CM000685.2:g.108694820G=	GRCh38
NC_000023.10:g.107938050G= , CM000685.1:g.107938050G=	GRCh37
NC_000023.9:g.107824706G=	NCBI36
NG_011977.1:g.259897G=
NG_011977.2:g.259897G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4720G= MANE Select	ENSP00000331902.7:p.Glu1574=
ENST00000361603.7:c.4702G=	ENSP00000354505.2:p.Glu1568=
ENST00000510690.2:n.1214G=
ENST00000644079.1:n.1206G=
ENST00000328300.10:c.4720G=	ENSP00000331902.6:p.Glu1574=
ENST00000361603.6:c.4702G=	ENSP00000354505.2:p.Glu1568=
ENST00000504541.1:c.118G=	ENSP00000424845.1:p.Glu40=
ENST00000515658.1:c.325-1477G=
NM_000495.4:c.4702G=	NP_000486.1:p.Glu1568=
NM_033380.2:c.4720G=	NP_203699.1:p.Glu1574=
XM_005262070.2:c.4711G=	XP_005262127.1:p.Glu1571=
XM_006724616.2:c.4720G=	XP_006724679.1:p.Glu1574=
XM_011530849.1:c.4396G=	XP_011529151.1:p.Glu1466=
XM_011530851.1:c.2293G=	XP_011529153.1:p.Glu765=
XM_011530849.2:c.4735G=	XP_011529151.2:p.Glu1579=
XM_017029259.2:c.4726G=	XP_016884748.1:p.Glu1576=
XM_017029260.1:c.4717G=	XP_016884749.1:p.Glu1573=
XM_017029263.2:c.3055G=	XP_016884752.1:p.Glu1019=
NM_000495.5:c.4702G=	NP_000486.1:p.Glu1568=
NM_033380.3:c.4720G= MANE Select	NP_203699.1:p.Glu1574=