Canonical Allele Identifier: CA2450712347
Community Standard Title: NM_033380.3(COL4A5):c.3538C= (p.Gln1180=)
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108666579C= , CM000685.2:g.108666579C= GRCh38
NC_000023.10:g.107909809C= , CM000685.1:g.107909809C= GRCh37
NC_000023.9:g.107796465C= NCBI36
NG_011977.1:g.231656C=
NG_011977.2:g.231656C=

Transcript Alleles

HGVS Amino-acid Change
NM_033380.3:c.3538C= MANE Select NP_203699.1:p.Gln1180=
ENST00000328300.11:c.3538C= MANE Select ENSP00000331902.7:p.Gln1180=
NM_000495.4:c.3538C= NP_000486.1:p.Gln1180=
NM_000495.5:c.3538C= NP_000486.1:p.Gln1180=
NM_033380.2:c.3538C= NP_203699.1:p.Gln1180=
ENST00000328300.10:c.3538C= ENSP00000331902.6:p.Gln1180=
ENST00000361603.6:c.3538C= ENSP00000354505.2:p.Gln1180=
ENST00000361603.7:c.3538C= ENSP00000354505.2:p.Gln1180=
XM_005262070.2:c.3538C= XP_005262127.1:p.Gln1180=
XM_006724616.2:c.3538C= XP_006724679.1:p.Gln1180=
XM_011530849.1:c.3214C= XP_011529151.1:p.Gln1072=
XM_011530849.2:c.3553C= XP_011529151.2:p.Gln1185=
XM_011530850.1:c.3538C= XP_011529152.1:p.Gln1180=
XM_011530851.1:c.1111C= XP_011529153.1:p.Gln371=
XM_017029259.2:c.3553C= XP_016884748.1:p.Gln1185=
XM_017029260.1:c.3553C= XP_016884749.1:p.Gln1185=
XM_017029261.1:c.3553C= XP_016884750.1:p.Gln1185=
XM_017029262.2:c.3553C= XP_016884751.1:p.Gln1185=
XM_017029263.2:c.1873C= XP_016884752.1:p.Gln625=