Canonical Allele Identifier: CA517925851
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107938112G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694882G>A , CM000685.2:g.108694882G>A GRCh38
NC_000023.10:g.107938112G>A , CM000685.1:g.107938112G>A GRCh37
NC_000023.9:g.107824768G>A NCBI36
NG_011977.1:g.259959G>A
NG_011977.2:g.259959G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4782G>A MANE Select ENSP00000331902.7:p.Gln1594=
ENST00000361603.7:c.4764G>A ENSP00000354505.2:p.Gln1588=
ENST00000510690.2:n.1276G>A
ENST00000644079.1:n.1268G>A
ENST00000328300.10:c.4782G>A ENSP00000331902.6:p.Gln1594=
ENST00000361603.6:c.4764G>A ENSP00000354505.2:p.Gln1588=
ENST00000504541.1:c.180G>A ENSP00000424845.1:p.Gln60=
ENST00000515658.1:c.325-1415G>A
NM_000495.4:c.4764G>A NP_000486.1:p.Gln1588=
NM_033380.2:c.4782G>A NP_203699.1:p.Gln1594=
XM_005262070.2:c.4773G>A XP_005262127.1:p.Gln1591=
XM_006724616.2:c.4782G>A XP_006724679.1:p.Gln1594=
XM_011530849.1:c.4458G>A XP_011529151.1:p.Gln1486=
XM_011530851.1:c.2355G>A XP_011529153.1:p.Gln785=
XM_011530849.2:c.4797G>A XP_011529151.2:p.Gln1599=
XM_017029259.2:c.4788G>A XP_016884748.1:p.Gln1596=
XM_017029260.1:c.4779G>A XP_016884749.1:p.Gln1593=
XM_017029263.2:c.3117G>A XP_016884752.1:p.Gln1039=
NM_000495.5:c.4764G>A NP_000486.1:p.Gln1588=
NM_033380.3:c.4782G>A MANE Select NP_203699.1:p.Gln1594=