Canonical Allele Identifier: CA258543
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 24448
ClinVar RCV Id: RCV000021327
dbSNP Id: rs104886131

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108598702G>A , CM000685.2:g.108598702G>A GRCh38
NC_000023.10:g.107841932G>A , CM000685.1:g.107841932G>A GRCh37
NC_000023.9:g.107728588G>A NCBI36
NG_011977.1:g.163779G>A
NG_011977.2:g.163779G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.10:c.1780G>A ENSP00000331902.6:p.Gly594Ser
ENST00000361603.6:c.1780G>A ENSP00000354505.2:p.Gly594Ser
NM_000495.4:c.1780G>A NP_000486.1:p.Gly594Ser
NM_033380.2:c.1780G>A NP_203699.1:p.Gly594Ser
XM_005262070.2:c.1780G>A XP_005262127.1:p.Gly594Ser
XM_005262072.3:c.1780G>A XP_005262129.1:p.Gly594Ser
XM_006724616.2:c.1780G>A XP_006724679.1:p.Gly594Ser
XM_011530849.1:c.1456G>A XP_011529151.1:p.Gly486Ser
XM_011530850.1:c.1780G>A XP_011529152.1:p.Gly594Ser
XM_011530849.2:c.1795G>A XP_011529151.2:p.Gly599Ser
XM_017029259.2:c.1795G>A XP_016884748.1:p.Gly599Ser
XM_017029260.1:c.1795G>A XP_016884749.1:p.Gly599Ser
XM_017029261.1:c.1795G>A XP_016884750.1:p.Gly599Ser
XM_017029262.2:c.1795G>A XP_016884751.1:p.Gly599Ser
XM_017029263.2:c.115G>A XP_016884752.1:p.Gly39Ser
NM_000495.5:c.1780G>A NP_000486.1:p.Gly594Ser
NM_033380.3:c.1780G>A MANE Select NP_203699.1:p.Gly594Ser