Canonical Allele Identifier: CA2450719198
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687482G= , CM000685.2:g.108687482G= GRCh38
NC_000023.10:g.107930712G= , CM000685.1:g.107930712G= GRCh37
NC_000023.9:g.107817368G= NCBI36
NG_011977.1:g.252559G=
NG_011977.2:g.252559G=

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4316G= MANE Select ENSP00000331902.7:p.Gly1439=
ENST00000361603.7:c.4298G= ENSP00000354505.2:p.Gly1433=
ENST00000510690.2:n.810G=
ENST00000328300.10:c.4316G= ENSP00000331902.6:p.Gly1439=
ENST00000361603.6:c.4298G= ENSP00000354505.2:p.Gly1433=
ENST00000489230.1:n.719G=
ENST00000515658.1:c.112G=
NM_000495.4:c.4298G= NP_000486.1:p.Gly1433=
NM_033380.2:c.4316G= NP_203699.1:p.Gly1439=
XM_005262070.2:c.4307G= XP_005262127.1:p.Gly1436=
XM_006724616.2:c.4316G= XP_006724679.1:p.Gly1439=
XM_011530849.1:c.3992G= XP_011529151.1:p.Gly1331=
XM_011530851.1:c.1889G= XP_011529153.1:p.Gly630=
XM_011530849.2:c.4331G= XP_011529151.2:p.Gly1444=
XM_017029259.2:c.4322G= XP_016884748.1:p.Gly1441=
XM_017029260.1:c.4313G= XP_016884749.1:p.Gly1438=
XM_017029263.2:c.2651G= XP_016884752.1:p.Gly884=
NM_000495.5:c.4298G= NP_000486.1:p.Gly1433=
NM_033380.3:c.4316G= MANE Select NP_203699.1:p.Gly1439=