Canonical Allele Identifier: CA258753
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 24561
ClinVar RCV Id: RCV000021440
dbSNP Id: rs104886193

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108621871A>G , CM000685.2:g.108621871A>G GRCh38
NC_000023.10:g.107865101A>G , CM000685.1:g.107865101A>G GRCh37
NC_000023.9:g.107751757A>G NCBI36
NG_011977.1:g.186948A>G
NG_011977.2:g.186948A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.10:c.2746A>G ENSP00000331902.6:p.Ser916Gly
ENST00000361603.6:c.2746A>G ENSP00000354505.2:p.Ser916Gly
NM_000495.4:c.2746A>G NP_000486.1:p.Ser916Gly
NM_033380.2:c.2746A>G NP_203699.1:p.Ser916Gly
XM_005262070.2:c.2746A>G XP_005262127.1:p.Ser916Gly
XM_005262072.3:c.2746A>G XP_005262129.1:p.Ser916Gly
XM_006724616.2:c.2746A>G XP_006724679.1:p.Ser916Gly
XM_011530849.1:c.2422A>G XP_011529151.1:p.Ser808Gly
XM_011530850.1:c.2746A>G XP_011529152.1:p.Ser916Gly
XM_011530851.1:c.319A>G XP_011529153.1:p.Ser107Gly
XM_011530849.2:c.2761A>G XP_011529151.2:p.Ser921Gly
XM_017029259.2:c.2761A>G XP_016884748.1:p.Ser921Gly
XM_017029260.1:c.2761A>G XP_016884749.1:p.Ser921Gly
XM_017029261.1:c.2761A>G XP_016884750.1:p.Ser921Gly
XM_017029262.2:c.2761A>G XP_016884751.1:p.Ser921Gly
XM_017029263.2:c.1081A>G XP_016884752.1:p.Ser361Gly
NM_000495.5:c.2746A>G NP_000486.1:p.Ser916Gly
NM_033380.3:c.2746A>G MANE Select NP_203699.1:p.Ser916Gly