Canonical Allele Identifier: CA258296
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 24304
ClinVar RCV Id: RCV000021182
dbSNP Id: rs104886066

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108577980G>A , CM000685.2:g.108577980G>A GRCh38
NC_000023.10:g.107821210G>A , CM000685.1:g.107821210G>A GRCh37
NC_000023.9:g.107707866G>A NCBI36
NG_011977.1:g.143057G>A
NG_011977.2:g.143057G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.638G>A MANE Select ENSP00000331902.7:p.Gly213Glu
ENST00000361603.7:c.638G>A ENSP00000354505.2:p.Gly213Glu
ENST00000328300.10:c.638G>A ENSP00000331902.6:p.Gly213Glu
ENST00000361603.6:c.638G>A ENSP00000354505.2:p.Gly213Glu
NM_000495.4:c.638G>A NP_000486.1:p.Gly213Glu
NM_033380.2:c.638G>A NP_203699.1:p.Gly213Glu
XM_005262070.2:c.638G>A XP_005262127.1:p.Gly213Glu
XM_005262072.3:c.638G>A XP_005262129.1:p.Gly213Glu
XM_006724616.2:c.638G>A XP_006724679.1:p.Gly213Glu
XM_011530849.1:c.314G>A XP_011529151.1:p.Gly105Glu
XM_011530850.1:c.638G>A XP_011529152.1:p.Gly213Glu
XM_011530849.2:c.653G>A XP_011529151.2:p.Gly218Glu
XM_017029259.2:c.653G>A XP_016884748.1:p.Gly218Glu
XM_017029260.1:c.653G>A XP_016884749.1:p.Gly218Glu
XM_017029261.1:c.653G>A XP_016884750.1:p.Gly218Glu
XM_017029262.2:c.653G>A XP_016884751.1:p.Gly218Glu
NM_000495.5:c.638G>A NP_000486.1:p.Gly213Glu
NM_033380.3:c.638G>A MANE Select NP_203699.1:p.Gly213Glu