Canonical Allele Identifier: CA258512
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 24432
dbSNP Id: rs281874673

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108597432G>A , CM000685.2:g.108597432G>A GRCh38
NC_000023.10:g.107840662G>A , CM000685.1:g.107840662G>A GRCh37
NC_000023.9:g.107727318G>A NCBI36
NG_011977.1:g.162509G>A
NG_011977.2:g.162509G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.1643G>A MANE Select ENSP00000331902.7:p.Gly548Asp
ENST00000361603.7:c.1643G>A ENSP00000354505.2:p.Gly548Asp
ENST00000328300.10:c.1643G>A ENSP00000331902.6:p.Gly548Asp
ENST00000361603.6:c.1643G>A ENSP00000354505.2:p.Gly548Asp
ENST00000483338.1:n.1099G>A
NM_000495.4:c.1643G>A NP_000486.1:p.Gly548Asp
NM_033380.2:c.1643G>A NP_203699.1:p.Gly548Asp
XM_005262070.2:c.1643G>A XP_005262127.1:p.Gly548Asp
XM_005262072.3:c.1643G>A XP_005262129.1:p.Gly548Asp
XM_006724616.2:c.1643G>A XP_006724679.1:p.Gly548Asp
XM_011530849.1:c.1319G>A XP_011529151.1:p.Gly440Asp
XM_011530850.1:c.1643G>A XP_011529152.1:p.Gly548Asp
XM_011530849.2:c.1658G>A XP_011529151.2:p.Gly553Asp
XM_017029259.2:c.1658G>A XP_016884748.1:p.Gly553Asp
XM_017029260.1:c.1658G>A XP_016884749.1:p.Gly553Asp
XM_017029261.1:c.1658G>A XP_016884750.1:p.Gly553Asp
XM_017029262.2:c.1658G>A XP_016884751.1:p.Gly553Asp
XM_017029263.2:c.-23G>A XP_016884752.1:n.-23G>A
NM_000495.5:c.1643G>A NP_000486.1:p.Gly548Asp
NM_033380.3:c.1643G>A MANE Select NP_203699.1:p.Gly548Asp