Canonical Allele Identifier: CA2450718776
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108686097G= , CM000685.2:g.108686097G= GRCh38
NC_000023.10:g.107929327G= , CM000685.1:g.107929327G= GRCh37
NC_000023.9:g.107815983G= NCBI36
NG_011977.1:g.251174G=
NG_011977.2:g.251174G=

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4283G= MANE Select ENSP00000331902.7:p.Arg1428=
ENST00000361603.7:c.4265G= ENSP00000354505.2:p.Arg1422=
ENST00000510690.2:n.777G=
ENST00000328300.10:c.4283G= ENSP00000331902.6:p.Arg1428=
ENST00000361603.6:c.4265G= ENSP00000354505.2:p.Arg1422=
ENST00000489230.1:n.686G=
ENST00000515658.1:c.79G=
NM_000495.4:c.4265G= NP_000486.1:p.Arg1422=
NM_033380.2:c.4283G= NP_203699.1:p.Arg1428=
XM_005262070.2:c.4274G= XP_005262127.1:p.Arg1425=
XM_006724616.2:c.4283G= XP_006724679.1:p.Arg1428=
XM_011530849.1:c.3959G= XP_011529151.1:p.Arg1320=
XM_011530851.1:c.1856G= XP_011529153.1:p.Arg619=
XM_011530849.2:c.4298G= XP_011529151.2:p.Arg1433=
XM_017029259.2:c.4289G= XP_016884748.1:p.Arg1430=
XM_017029260.1:c.4280G= XP_016884749.1:p.Arg1427=
XM_017029263.2:c.2618G= XP_016884752.1:p.Arg873=
NM_000495.5:c.4265G= NP_000486.1:p.Arg1422=
NM_033380.3:c.4283G= MANE Select NP_203699.1:p.Arg1428=