Canonical Allele Identifier: CA2450719207
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687496G= , CM000685.2:g.108687496G= GRCh38
NC_000023.10:g.107930726G= , CM000685.1:g.107930726G= GRCh37
NC_000023.9:g.107817382G= NCBI36
NG_011977.1:g.252573G=
NG_011977.2:g.252573G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4330G= MANE Select ENSP00000331902.7:p.Asp1444=
ENST00000361603.7:c.4312G= ENSP00000354505.2:p.Asp1438=
ENST00000510690.2:n.824G=
ENST00000328300.10:c.4330G= ENSP00000331902.6:p.Asp1444=
ENST00000361603.6:c.4312G= ENSP00000354505.2:p.Asp1438=
ENST00000489230.1:n.733G=
ENST00000515658.1:c.126G=
NM_000495.4:c.4312G= NP_000486.1:p.Asp1438=
NM_033380.2:c.4330G= NP_203699.1:p.Asp1444=
XM_005262070.2:c.4321G= XP_005262127.1:p.Asp1441=
XM_006724616.2:c.4330G= XP_006724679.1:p.Asp1444=
XM_011530849.1:c.4006G= XP_011529151.1:p.Asp1336=
XM_011530851.1:c.1903G= XP_011529153.1:p.Asp635=
XM_011530849.2:c.4345G= XP_011529151.2:p.Asp1449=
XM_017029259.2:c.4336G= XP_016884748.1:p.Asp1446=
XM_017029260.1:c.4327G= XP_016884749.1:p.Asp1443=
XM_017029263.2:c.2665G= XP_016884752.1:p.Asp889=
NM_000495.5:c.4312G= NP_000486.1:p.Asp1438=
NM_033380.3:c.4330G= MANE Select NP_203699.1:p.Asp1444=