Canonical Allele Identifier: CA2450719231
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687662A= , CM000685.2:g.108687662A= GRCh38
NC_000023.10:g.107930892A= , CM000685.1:g.107930892A= GRCh37
NC_000023.9:g.107817548A= NCBI36
NG_011977.1:g.252739A=
NG_011977.2:g.252739A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4496A= MANE Select ENSP00000331902.7:p.Gln1499=
ENST00000361603.7:c.4478A= ENSP00000354505.2:p.Gln1493=
ENST00000510690.2:n.990A=
ENST00000328300.10:c.4496A= ENSP00000331902.6:p.Gln1499=
ENST00000361603.6:c.4478A= ENSP00000354505.2:p.Gln1493=
ENST00000515658.1:c.292A=
NM_000495.4:c.4478A= NP_000486.1:p.Gln1493=
NM_033380.2:c.4496A= NP_203699.1:p.Gln1499=
XM_005262070.2:c.4487A= XP_005262127.1:p.Gln1496=
XM_006724616.2:c.4496A= XP_006724679.1:p.Gln1499=
XM_011530849.1:c.4172A= XP_011529151.1:p.Gln1391=
XM_011530851.1:c.2069A= XP_011529153.1:p.Gln690=
XM_011530849.2:c.4511A= XP_011529151.2:p.Gln1504=
XM_017029259.2:c.4502A= XP_016884748.1:p.Gln1501=
XM_017029260.1:c.4493A= XP_016884749.1:p.Gln1498=
XM_017029263.2:c.2831A= XP_016884752.1:p.Gln944=
NM_000495.5:c.4478A= NP_000486.1:p.Gln1493=
NM_033380.3:c.4496A= MANE Select NP_203699.1:p.Gln1499=