Canonical Allele Identifier: CA3065037026
Community Standard Title: NM_033380.3(COL4A5):c.1423+57C=
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108591701C= , CM000685.2:g.108591701C= GRCh38
NC_000023.10:g.107834931C= , CM000685.1:g.107834931C= GRCh37
NC_000023.9:g.107721587C= NCBI36
NG_011977.1:g.156778C=
NG_011977.2:g.156778C=

Transcript Alleles

HGVS Amino-acid Change
NM_033380.3:c.1423+57C= MANE Select NP_203699.1:n.1423+57C=
ENST00000328300.11:c.1423+57C= MANE Select ENSP00000331902.7:n.1423+57C=
NM_000495.4:c.1423+57C= NP_000486.1:n.1423+57C=
NM_000495.5:c.1423+57C= NP_000486.1:n.1423+57C=
NM_033380.2:c.1423+57C= NP_203699.1:n.1423+57C=
ENST00000328300.10:c.1423+57C= ENSP00000331902.6:n.1423+57C=
ENST00000361603.6:c.1423+57C= ENSP00000354505.2:n.1423+57C=
ENST00000361603.7:c.1423+57C= ENSP00000354505.2:n.1423+57C=
ENST00000483338.1:n.879+57C=
XM_005262070.2:c.1423+57C= XP_005262127.1:n.1423+57C=
XM_005262072.3:c.1423+57C= XP_005262129.1:n.1423+57C=
XM_006724616.2:c.1423+57C= XP_006724679.1:n.1423+57C=
XM_011530849.1:c.1099+57C= XP_011529151.1:n.1099+57C=
XM_011530849.2:c.1438+57C= XP_011529151.2:n.1438+57C=
XM_011530850.1:c.1423+57C= XP_011529152.1:n.1423+57C=
XM_017029259.2:c.1438+57C= XP_016884748.1:n.1438+57C=
XM_017029260.1:c.1438+57C= XP_016884749.1:n.1438+57C=
XM_017029261.1:c.1438+57C= XP_016884750.1:n.1438+57C=
XM_017029262.2:c.1438+57C= XP_016884751.1:n.1438+57C=
XM_017029263.2:c.-287+57C= XP_016884752.1:n.-287+57C=