Canonical Allele Identifier: CA2450718782
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108686107C= , CM000685.2:g.108686107C= GRCh38
NC_000023.10:g.107929337C= , CM000685.1:g.107929337C= GRCh37
NC_000023.9:g.107815993C= NCBI36
NG_011977.1:g.251184C=
NG_011977.2:g.251184C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4293C= MANE Select ENSP00000331902.7:p.Asp1431=
ENST00000361603.7:c.4275C= ENSP00000354505.2:p.Asp1425=
ENST00000510690.2:n.787C=
ENST00000328300.10:c.4293C= ENSP00000331902.6:p.Asp1431=
ENST00000361603.6:c.4275C= ENSP00000354505.2:p.Asp1425=
ENST00000489230.1:n.696C=
ENST00000515658.1:c.89C=
NM_000495.4:c.4275C= NP_000486.1:p.Asp1425=
NM_033380.2:c.4293C= NP_203699.1:p.Asp1431=
XM_005262070.2:c.4284C= XP_005262127.1:p.Asp1428=
XM_006724616.2:c.4293C= XP_006724679.1:p.Asp1431=
XM_011530849.1:c.3969C= XP_011529151.1:p.Asp1323=
XM_011530851.1:c.1866C= XP_011529153.1:p.Asp622=
XM_011530849.2:c.4308C= XP_011529151.2:p.Asp1436=
XM_017029259.2:c.4299C= XP_016884748.1:p.Asp1433=
XM_017029260.1:c.4290C= XP_016884749.1:p.Asp1430=
XM_017029263.2:c.2628C= XP_016884752.1:p.Asp876=
NM_000495.5:c.4275C= NP_000486.1:p.Asp1425=
NM_033380.3:c.4293C= MANE Select NP_203699.1:p.Asp1431=