Canonical Allele Identifier: CA2450721748
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695337G= , CM000685.2:g.108695337G= GRCh38
NC_000023.10:g.107938567G= , CM000685.1:g.107938567G= GRCh37
NC_000023.9:g.107825223G= NCBI36
NG_011977.1:g.260414G=
NG_011977.2:g.260414G=

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4892G= MANE Select ENSP00000331902.7:p.Arg1631=
ENST00000361603.7:c.4874G= ENSP00000354505.2:p.Arg1625=
ENST00000510690.2:n.1386G=
ENST00000644079.1:n.1723G=
ENST00000328300.10:c.4892G= ENSP00000331902.6:p.Arg1631=
ENST00000361603.6:c.4874G= ENSP00000354505.2:p.Arg1625=
ENST00000504541.1:c.219+416G= ENSP00000424845.1:n.219+416G=
ENST00000515658.1:c.325-960G=
NM_000495.4:c.4874G= NP_000486.1:p.Arg1625=
NM_033380.2:c.4892G= NP_203699.1:p.Arg1631=
XM_005262070.2:c.4883G= XP_005262127.1:p.Arg1628=
XM_006724616.2:c.4892G= XP_006724679.1:p.Arg1631=
XM_011530849.1:c.4568G= XP_011529151.1:p.Arg1523=
XM_011530851.1:c.2465G= XP_011529153.1:p.Arg822=
XM_011530849.2:c.4907G= XP_011529151.2:p.Arg1636=
XM_017029259.2:c.4898G= XP_016884748.1:p.Arg1633=
XM_017029260.1:c.4889G= XP_016884749.1:p.Arg1630=
XM_017029263.2:c.3227G= XP_016884752.1:p.Arg1076=
NM_000495.5:c.4874G= NP_000486.1:p.Arg1625=
NM_033380.3:c.4892G= MANE Select NP_203699.1:p.Arg1631=