Canonical Allele Identifier: CA2450687739
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108595545C= , CM000685.2:g.108595545C= GRCh38
NC_000023.10:g.107838775C= , CM000685.1:g.107838775C= GRCh37
NC_000023.9:g.107725431C= NCBI36
NG_011977.1:g.160622C=
NG_011977.2:g.160622C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.1460C= MANE Select ENSP00000331902.7:p.Thr487=
ENST00000361603.7:c.1460C= ENSP00000354505.2:p.Thr487=
ENST00000328300.10:c.1460C= ENSP00000331902.6:p.Thr487=
ENST00000361603.6:c.1460C= ENSP00000354505.2:p.Thr487=
ENST00000483338.1:n.916C=
NM_000495.4:c.1460C= NP_000486.1:p.Thr487=
NM_033380.2:c.1460C= NP_203699.1:p.Thr487=
XM_005262070.2:c.1460C= XP_005262127.1:p.Thr487=
XM_005262072.3:c.1460C= XP_005262129.1:p.Thr487=
XM_006724616.2:c.1460C= XP_006724679.1:p.Thr487=
XM_011530849.1:c.1136C= XP_011529151.1:p.Thr379=
XM_011530850.1:c.1460C= XP_011529152.1:p.Thr487=
XM_011530849.2:c.1475C= XP_011529151.2:p.Thr492=
XM_017029259.2:c.1475C= XP_016884748.1:p.Thr492=
XM_017029260.1:c.1475C= XP_016884749.1:p.Thr492=
XM_017029261.1:c.1475C= XP_016884750.1:p.Thr492=
XM_017029262.2:c.1475C= XP_016884751.1:p.Thr492=
XM_017029263.2:c.-206C= XP_016884752.1:n.-206C=
NM_000495.5:c.1460C= NP_000486.1:p.Thr487=
NM_033380.3:c.1460C= MANE Select NP_203699.1:p.Thr487=