Canonical Allele Identifier: CA2450721762
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695373C= , CM000685.2:g.108695373C= GRCh38
NC_000023.10:g.107938603C= , CM000685.1:g.107938603C= GRCh37
NC_000023.9:g.107825259C= NCBI36
NG_011977.1:g.260450C=
NG_011977.2:g.260450C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4928C= MANE Select ENSP00000331902.7:p.Thr1643=
ENST00000361603.7:c.4910C= ENSP00000354505.2:p.Thr1637=
ENST00000510690.2:n.1422C=
ENST00000644079.1:n.1759C=
ENST00000328300.10:c.4928C= ENSP00000331902.6:p.Thr1643=
ENST00000361603.6:c.4910C= ENSP00000354505.2:p.Thr1637=
ENST00000504541.1:c.219+452C= ENSP00000424845.1:n.219+452C=
ENST00000515658.1:c.325-924C=
NM_000495.4:c.4910C= NP_000486.1:p.Thr1637=
NM_033380.2:c.4928C= NP_203699.1:p.Thr1643=
XM_005262070.2:c.4919C= XP_005262127.1:p.Thr1640=
XM_006724616.2:c.4928C= XP_006724679.1:p.Thr1643=
XM_011530849.1:c.4604C= XP_011529151.1:p.Thr1535=
XM_011530851.1:c.2501C= XP_011529153.1:p.Thr834=
XM_011530849.2:c.4943C= XP_011529151.2:p.Thr1648=
XM_017029259.2:c.4934C= XP_016884748.1:p.Thr1645=
XM_017029260.1:c.4925C= XP_016884749.1:p.Thr1642=
XM_017029263.2:c.3263C= XP_016884752.1:p.Thr1088=
NM_000495.5:c.4910C= NP_000486.1:p.Thr1637=
NM_033380.3:c.4928C= MANE Select NP_203699.1:p.Thr1643=