Canonical Allele Identifier: CA414132400
Gene: COL4A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694815T>A , CM000685.2:g.108694815T>A GRCh38
NC_000023.10:g.107938045T>A , CM000685.1:g.107938045T>A GRCh37
NC_000023.9:g.107824701T>A NCBI36
NG_011977.1:g.259892T>A
NG_011977.2:g.259892T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4715T>A MANE Select ENSP00000331902.7:p.Val1572Glu
ENST00000361603.7:c.4697T>A ENSP00000354505.2:p.Val1566Glu
ENST00000510690.2:n.1209T>A
ENST00000644079.1:n.1201T>A
ENST00000328300.10:c.4715T>A ENSP00000331902.6:p.Val1572Glu
ENST00000361603.6:c.4697T>A ENSP00000354505.2:p.Val1566Glu
ENST00000504541.1:c.113T>A ENSP00000424845.1:p.Val38Glu
ENST00000515658.1:c.325-1482T>A
NM_000495.4:c.4697T>A NP_000486.1:p.Val1566Glu
NM_033380.2:c.4715T>A NP_203699.1:p.Val1572Glu
XM_005262070.2:c.4706T>A XP_005262127.1:p.Val1569Glu
XM_006724616.2:c.4715T>A XP_006724679.1:p.Val1572Glu
XM_011530849.1:c.4391T>A XP_011529151.1:p.Val1464Glu
XM_011530851.1:c.2288T>A XP_011529153.1:p.Val763Glu
XM_011530849.2:c.4730T>A XP_011529151.2:p.Val1577Glu
XM_017029259.2:c.4721T>A XP_016884748.1:p.Val1574Glu
XM_017029260.1:c.4712T>A XP_016884749.1:p.Val1571Glu
XM_017029263.2:c.3050T>A XP_016884752.1:p.Val1017Glu
NM_000495.5:c.4697T>A NP_000486.1:p.Val1566Glu
NM_033380.3:c.4715T>A MANE Select NP_203699.1:p.Val1572Glu