Canonical Allele Identifier: CA413854786
Gene: COL4A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687680A>G , CM000685.2:g.108687680A>G GRCh38
NC_000023.10:g.107930910A>G , CM000685.1:g.107930910A>G GRCh37
NC_000023.9:g.107817566A>G NCBI36
NG_011977.1:g.252757A>G
NG_011977.2:g.252757A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4514A>G MANE Select ENSP00000331902.7:p.His1505Arg
ENST00000361603.7:c.4496A>G ENSP00000354505.2:p.His1499Arg
ENST00000510690.2:n.1008A>G
ENST00000328300.10:c.4514A>G ENSP00000331902.6:p.His1505Arg
ENST00000361603.6:c.4496A>G ENSP00000354505.2:p.His1499Arg
ENST00000515658.1:c.310A>G
NM_000495.4:c.4496A>G NP_000486.1:p.His1499Arg
NM_033380.2:c.4514A>G NP_203699.1:p.His1505Arg
XM_005262070.2:c.4505A>G XP_005262127.1:p.His1502Arg
XM_006724616.2:c.4514A>G XP_006724679.1:p.His1505Arg
XM_011530849.1:c.4190A>G XP_011529151.1:p.His1397Arg
XM_011530851.1:c.2087A>G XP_011529153.1:p.His696Arg
XM_011530849.2:c.4529A>G XP_011529151.2:p.His1510Arg
XM_017029259.2:c.4520A>G XP_016884748.1:p.His1507Arg
XM_017029260.1:c.4511A>G XP_016884749.1:p.His1504Arg
XM_017029263.2:c.2849A>G XP_016884752.1:p.His950Arg
NM_000495.5:c.4496A>G NP_000486.1:p.His1499Arg
NM_033380.3:c.4514A>G MANE Select NP_203699.1:p.His1505Arg