Canonical Allele Identifier: CA517992084

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108586699C>A , CM000685.2:g.108586699C>A	GRCh38
NC_000023.10:g.107829929C>A , CM000685.1:g.107829929C>A	GRCh37
NC_000023.9:g.107716585C>A	NCBI36
NG_011977.1:g.151776C>A
NG_011977.2:g.151776C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033380.3:c.1117C>A MANE Select	NP_203699.1:p.Arg373=
ENST00000328300.11:c.1117C>A MANE Select	ENSP00000331902.7:p.Arg373=
NM_000495.4:c.1117C>A	NP_000486.1:p.Arg373=
NM_000495.5:c.1117C>A	NP_000486.1:p.Arg373=
NM_033380.2:c.1117C>A	NP_203699.1:p.Arg373=
ENST00000328300.10:c.1117C>A	ENSP00000331902.6:p.Arg373=
ENST00000361603.6:c.1117C>A	ENSP00000354505.2:p.Arg373=
ENST00000361603.7:c.1117C>A	ENSP00000354505.2:p.Arg373=
ENST00000483338.1:n.573C>A
XM_005262070.2:c.1117C>A	XP_005262127.1:p.Arg373=
XM_005262072.3:c.1117C>A	XP_005262129.1:p.Arg373=
XM_006724616.2:c.1117C>A	XP_006724679.1:p.Arg373=
XM_011530849.1:c.793C>A	XP_011529151.1:p.Arg265=
XM_011530849.2:c.1132C>A	XP_011529151.2:p.Arg378=
XM_011530850.1:c.1117C>A	XP_011529152.1:p.Arg373=
XM_017029259.2:c.1132C>A	XP_016884748.1:p.Arg378=
XM_017029260.1:c.1132C>A	XP_016884749.1:p.Arg378=
XM_017029261.1:c.1132C>A	XP_016884750.1:p.Arg378=
XM_017029262.2:c.1132C>A	XP_016884751.1:p.Arg378=
XM_017029263.2:c.-593C>A	XP_016884752.1:n.-593C>A