Canonical Allele Identifier: CA2450717226
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108681797C= , CM000685.2:g.108681797C= GRCh38
NC_000023.10:g.107925027C= , CM000685.1:g.107925027C= GRCh37
NC_000023.9:g.107811683C= NCBI36
NG_011977.1:g.246874C=
NG_011977.2:g.246874C=

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4125C= MANE Select ENSP00000331902.7:p.Ile1375=
ENST00000361603.7:c.4107C= ENSP00000354505.2:p.Ile1369=
ENST00000510690.2:n.619C=
ENST00000328300.10:c.4125C= ENSP00000331902.6:p.Ile1375=
ENST00000361603.6:c.4107C= ENSP00000354505.2:p.Ile1369=
ENST00000489230.1:n.528C=
NM_000495.4:c.4107C= NP_000486.1:p.Ile1369=
NM_033380.2:c.4125C= NP_203699.1:p.Ile1375=
XM_005262070.2:c.4116C= XP_005262127.1:p.Ile1372=
XM_006724616.2:c.4125C= XP_006724679.1:p.Ile1375=
XM_011530849.1:c.3801C= XP_011529151.1:p.Ile1267=
XM_011530851.1:c.1698C= XP_011529153.1:p.Ile566=
XM_011530849.2:c.4140C= XP_011529151.2:p.Ile1380=
XM_017029259.2:c.4131C= XP_016884748.1:p.Ile1377=
XM_017029260.1:c.4122C= XP_016884749.1:p.Ile1374=
XM_017029263.2:c.2460C= XP_016884752.1:p.Ile820=
NM_000495.5:c.4107C= NP_000486.1:p.Ile1369=
NM_033380.3:c.4125C= MANE Select NP_203699.1:p.Ile1375=