Canonical Allele Identifier: CA2450717284
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108681947T= , CM000685.2:g.108681947T= GRCh38
NC_000023.10:g.107925177T= , CM000685.1:g.107925177T= GRCh37
NC_000023.9:g.107811833T= NCBI36
NG_011977.1:g.247024T=
NG_011977.2:g.247024T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4216+59T= MANE Select ENSP00000331902.7:n.4216+59T=
ENST00000361603.7:c.4198+59T= ENSP00000354505.2:n.4198+59T=
ENST00000510690.2:n.710+59T=
ENST00000328300.10:c.4216+59T= ENSP00000331902.6:n.4216+59T=
ENST00000361603.6:c.4198+59T= ENSP00000354505.2:n.4198+59T=
ENST00000489230.1:n.619+59T=
ENST00000515658.1:c.12+59T=
NM_000495.4:c.4198+59T= NP_000486.1:n.4198+59T=
NM_033380.2:c.4216+59T= NP_203699.1:n.4216+59T=
XM_005262070.2:c.4207+59T= XP_005262127.1:n.4207+59T=
XM_006724616.2:c.4216+59T= XP_006724679.1:n.4216+59T=
XM_011530849.1:c.3892+59T= XP_011529151.1:n.3892+59T=
XM_011530851.1:c.1789+59T= XP_011529153.1:n.1789+59T=
XM_011530849.2:c.4231+59T= XP_011529151.2:n.4231+59T=
XM_017029259.2:c.4222+59T= XP_016884748.1:n.4222+59T=
XM_017029260.1:c.4213+59T= XP_016884749.1:n.4213+59T=
XM_017029263.2:c.2551+59T= XP_016884752.1:n.2551+59T=
NM_000495.5:c.4198+59T= NP_000486.1:n.4198+59T=
NM_033380.3:c.4216+59T= MANE Select NP_203699.1:n.4216+59T=