Canonical Allele Identifier: CA2580701032
Community Standard Title: NM_033380.3(COL4A5):c.2965G= (p.Asp989=)
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108624283G= , CM000685.2:g.108624283G= GRCh38
NC_000023.10:g.107867513G= , CM000685.1:g.107867513G= GRCh37
NC_000023.9:g.107754169G= NCBI36
NG_011977.1:g.189360G=
NG_011977.2:g.189360G=

Transcript Alleles

HGVS Amino-acid Change
NM_033380.3:c.2965G= MANE Select NP_203699.1:p.Asp989=
ENST00000328300.11:c.2965G= MANE Select ENSP00000331902.7:p.Asp989=
NM_000495.4:c.2965G= NP_000486.1:p.Asp989=
NM_000495.5:c.2965G= NP_000486.1:p.Asp989=
NM_033380.2:c.2965G= NP_203699.1:p.Asp989=
ENST00000328300.10:c.2965G= ENSP00000331902.6:p.Asp989=
ENST00000361603.6:c.2965G= ENSP00000354505.2:p.Asp989=
ENST00000361603.7:c.2965G= ENSP00000354505.2:p.Asp989=
ENST00000483338.1:n.2421G=
ENST00000505728.1:c.198G=
XM_005262070.2:c.2965G= XP_005262127.1:p.Asp989=
XM_005262072.3:c.2965G= XP_005262129.1:p.Asp989=
XM_006724616.2:c.2965G= XP_006724679.1:p.Asp989=
XM_011530849.1:c.2641G= XP_011529151.1:p.Asp881=
XM_011530849.2:c.2980G= XP_011529151.2:p.Asp994=
XM_011530850.1:c.2965G= XP_011529152.1:p.Asp989=
XM_011530851.1:c.538G= XP_011529153.1:p.Asp180=
XM_017029259.2:c.2980G= XP_016884748.1:p.Asp994=
XM_017029260.1:c.2980G= XP_016884749.1:p.Asp994=
XM_017029261.1:c.2980G= XP_016884750.1:p.Asp994=
XM_017029262.2:c.2980G= XP_016884751.1:p.Asp994=
XM_017029263.2:c.1300G= XP_016884752.1:p.Asp434=