Canonical Allele Identifier: CA258560
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 24455
dbSNP Id: rs104886142

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108598793G>A , CM000685.2:g.108598793G>A GRCh38
NC_000023.9:g.107728679G>A NCBI36
NC_000023.10:g.107842023G>A , CM000685.1:g.107842023G>A GRCh37
NG_011977.1:g.163870G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.10:c.1871G>A ENSP00000331902.6:p.Gly624Asp
ENST00000361603.6:c.1871G>A ENSP00000354505.2:p.Gly624Asp
ENST00000483338.1:n.1327G>A
NM_000495.4:c.1871G>A NP_000486.1:p.Gly624Asp
NM_033380.2:c.1871G>A NP_203699.1:p.Gly624Asp
XM_005262070.2:c.1871G>A XP_005262127.1:p.Gly624Asp
XM_005262072.3:c.1871G>A XP_005262129.1:p.Gly624Asp
XM_006724616.2:c.1871G>A XP_006724679.1:p.Gly624Asp
XM_011530849.1:c.1547G>A XP_011529151.1:p.Gly516Asp
XM_011530850.1:c.1871G>A XP_011529152.1:p.Gly624Asp