Canonical Allele Identifier: CA2450721571
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694818G= , CM000685.2:g.108694818G= GRCh38
NC_000023.10:g.107938048G= , CM000685.1:g.107938048G= GRCh37
NC_000023.9:g.107824704G= NCBI36
NG_011977.1:g.259895G=
NG_011977.2:g.259895G=

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4718G= MANE Select ENSP00000331902.7:p.Cys1573=
ENST00000361603.7:c.4700G= ENSP00000354505.2:p.Cys1567=
ENST00000510690.2:n.1212G=
ENST00000644079.1:n.1204G=
ENST00000328300.10:c.4718G= ENSP00000331902.6:p.Cys1573=
ENST00000361603.6:c.4700G= ENSP00000354505.2:p.Cys1567=
ENST00000504541.1:c.116G= ENSP00000424845.1:p.Cys39=
ENST00000515658.1:c.325-1479G=
NM_000495.4:c.4700G= NP_000486.1:p.Cys1567=
NM_033380.2:c.4718G= NP_203699.1:p.Cys1573=
XM_005262070.2:c.4709G= XP_005262127.1:p.Cys1570=
XM_006724616.2:c.4718G= XP_006724679.1:p.Cys1573=
XM_011530849.1:c.4394G= XP_011529151.1:p.Cys1465=
XM_011530851.1:c.2291G= XP_011529153.1:p.Cys764=
XM_011530849.2:c.4733G= XP_011529151.2:p.Cys1578=
XM_017029259.2:c.4724G= XP_016884748.1:p.Cys1575=
XM_017029260.1:c.4715G= XP_016884749.1:p.Cys1572=
XM_017029263.2:c.3053G= XP_016884752.1:p.Cys1018=
NM_000495.5:c.4700G= NP_000486.1:p.Cys1567=
NM_033380.3:c.4718G= MANE Select NP_203699.1:p.Cys1573=