Canonical Allele Identifier: CA2450721759
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695361A= , CM000685.2:g.108695361A= GRCh38
NC_000023.10:g.107938591A= , CM000685.1:g.107938591A= GRCh37
NC_000023.9:g.107825247A= NCBI36
NG_011977.1:g.260438A=
NG_011977.2:g.260438A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4916A= MANE Select ENSP00000331902.7:p.His1639=
ENST00000361603.7:c.4898A= ENSP00000354505.2:p.His1633=
ENST00000510690.2:n.1410A=
ENST00000644079.1:n.1747A=
ENST00000328300.10:c.4916A= ENSP00000331902.6:p.His1639=
ENST00000361603.6:c.4898A= ENSP00000354505.2:p.His1633=
ENST00000504541.1:c.219+440A= ENSP00000424845.1:n.219+440A=
ENST00000515658.1:c.325-936A=
NM_000495.4:c.4898A= NP_000486.1:p.His1633=
NM_033380.2:c.4916A= NP_203699.1:p.His1639=
XM_005262070.2:c.4907A= XP_005262127.1:p.His1636=
XM_006724616.2:c.4916A= XP_006724679.1:p.His1639=
XM_011530849.1:c.4592A= XP_011529151.1:p.His1531=
XM_011530851.1:c.2489A= XP_011529153.1:p.His830=
XM_011530849.2:c.4931A= XP_011529151.2:p.His1644=
XM_017029259.2:c.4922A= XP_016884748.1:p.His1641=
XM_017029260.1:c.4913A= XP_016884749.1:p.His1638=
XM_017029263.2:c.3251A= XP_016884752.1:p.His1084=
NM_000495.5:c.4898A= NP_000486.1:p.His1633=
NM_033380.3:c.4916A= MANE Select NP_203699.1:p.His1639=