Canonical Allele Identifier: CA2450718774
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108686095G= , CM000685.2:g.108686095G= GRCh38
NC_000023.10:g.107929325G= , CM000685.1:g.107929325G= GRCh37
NC_000023.9:g.107815981G= NCBI36
NG_011977.1:g.251172G=
NG_011977.2:g.251172G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4281G= MANE Select ENSP00000331902.7:p.Gly1427=
ENST00000361603.7:c.4263G= ENSP00000354505.2:p.Gly1421=
ENST00000510690.2:n.775G=
ENST00000328300.10:c.4281G= ENSP00000331902.6:p.Gly1427=
ENST00000361603.6:c.4263G= ENSP00000354505.2:p.Gly1421=
ENST00000489230.1:n.684G=
ENST00000515658.1:c.77G=
NM_000495.4:c.4263G= NP_000486.1:p.Gly1421=
NM_033380.2:c.4281G= NP_203699.1:p.Gly1427=
XM_005262070.2:c.4272G= XP_005262127.1:p.Gly1424=
XM_006724616.2:c.4281G= XP_006724679.1:p.Gly1427=
XM_011530849.1:c.3957G= XP_011529151.1:p.Gly1319=
XM_011530851.1:c.1854G= XP_011529153.1:p.Gly618=
XM_011530849.2:c.4296G= XP_011529151.2:p.Gly1432=
XM_017029259.2:c.4287G= XP_016884748.1:p.Gly1429=
XM_017029260.1:c.4278G= XP_016884749.1:p.Gly1426=
XM_017029263.2:c.2616G= XP_016884752.1:p.Gly872=
NM_000495.5:c.4263G= NP_000486.1:p.Gly1421=
NM_033380.3:c.4281G= MANE Select NP_203699.1:p.Gly1427=