Canonical Allele Identifier: CA2450721588
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694858G= , CM000685.2:g.108694858G= GRCh38
NC_000023.10:g.107938088G= , CM000685.1:g.107938088G= GRCh37
NC_000023.9:g.107824744G= NCBI36
NG_011977.1:g.259935G=
NG_011977.2:g.259935G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4758G= MANE Select ENSP00000331902.7:p.Thr1586=
ENST00000361603.7:c.4740G= ENSP00000354505.2:p.Thr1580=
ENST00000510690.2:n.1252G=
ENST00000644079.1:n.1244G=
ENST00000328300.10:c.4758G= ENSP00000331902.6:p.Thr1586=
ENST00000361603.6:c.4740G= ENSP00000354505.2:p.Thr1580=
ENST00000504541.1:c.156G= ENSP00000424845.1:p.Thr52=
ENST00000515658.1:c.325-1439G=
NM_000495.4:c.4740G= NP_000486.1:p.Thr1580=
NM_033380.2:c.4758G= NP_203699.1:p.Thr1586=
XM_005262070.2:c.4749G= XP_005262127.1:p.Thr1583=
XM_006724616.2:c.4758G= XP_006724679.1:p.Thr1586=
XM_011530849.1:c.4434G= XP_011529151.1:p.Thr1478=
XM_011530851.1:c.2331G= XP_011529153.1:p.Thr777=
XM_011530849.2:c.4773G= XP_011529151.2:p.Thr1591=
XM_017029259.2:c.4764G= XP_016884748.1:p.Thr1588=
XM_017029260.1:c.4755G= XP_016884749.1:p.Thr1585=
XM_017029263.2:c.3093G= XP_016884752.1:p.Thr1031=
NM_000495.5:c.4740G= NP_000486.1:p.Thr1580=
NM_033380.3:c.4758G= MANE Select NP_203699.1:p.Thr1586=