Canonical Allele Identifier: CA2450697377
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108624382T= , CM000685.2:g.108624382T= GRCh38
NC_000023.10:g.107867612T= , CM000685.1:g.107867612T= GRCh37
NC_000023.9:g.107754268T= NCBI36
NG_011977.1:g.189459T=
NG_011977.2:g.189459T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.3016+48T= MANE Select ENSP00000331902.7:n.3016+48T=
ENST00000361603.7:c.3016+48T= ENSP00000354505.2:n.3016+48T=
ENST00000328300.10:c.3016+48T= ENSP00000331902.6:n.3016+48T=
ENST00000361603.6:c.3016+48T= ENSP00000354505.2:n.3016+48T=
ENST00000483338.1:n.2472+48T=
ENST00000505728.1:c.249+48T=
NM_000495.4:c.3016+48T= NP_000486.1:n.3016+48T=
NM_033380.2:c.3016+48T= NP_203699.1:n.3016+48T=
XM_005262070.2:c.3016+48T= XP_005262127.1:n.3016+48T=
XM_005262072.3:c.3016+48T= XP_005262129.1:n.3016+48T=
XM_006724616.2:c.3016+48T= XP_006724679.1:n.3016+48T=
XM_011530849.1:c.2692+48T= XP_011529151.1:n.2692+48T=
XM_011530850.1:c.3016+48T= XP_011529152.1:n.3016+48T=
XM_011530851.1:c.589+48T= XP_011529153.1:n.589+48T=
XM_011530849.2:c.3031+48T= XP_011529151.2:n.3031+48T=
XM_017029259.2:c.3031+48T= XP_016884748.1:n.3031+48T=
XM_017029260.1:c.3031+48T= XP_016884749.1:n.3031+48T=
XM_017029261.1:c.3031+48T= XP_016884750.1:n.3031+48T=
XM_017029262.2:c.3031+48T= XP_016884751.1:n.3031+48T=
XM_017029263.2:c.1351+48T= XP_016884752.1:n.1351+48T=
NM_000495.5:c.3016+48T= NP_000486.1:n.3016+48T=
NM_033380.3:c.3016+48T= MANE Select NP_203699.1:n.3016+48T=