Canonical Allele Identifier: CA2450721628
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694972A= , CM000685.2:g.108694972A= GRCh38
NC_000023.10:g.107938202A= , CM000685.1:g.107938202A= GRCh37
NC_000023.9:g.107824858A= NCBI36
NG_011977.1:g.260049A=
NG_011977.2:g.260049A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4821+51A= MANE Select ENSP00000331902.7:n.4821+51A=
ENST00000361603.7:c.4803+51A= ENSP00000354505.2:n.4803+51A=
ENST00000510690.2:n.1315+51A=
ENST00000644079.1:n.1358A=
ENST00000328300.10:c.4821+51A= ENSP00000331902.6:n.4821+51A=
ENST00000361603.6:c.4803+51A= ENSP00000354505.2:n.4803+51A=
ENST00000504541.1:c.219+51A= ENSP00000424845.1:n.219+51A=
ENST00000515658.1:c.325-1325A=
NM_000495.4:c.4803+51A= NP_000486.1:n.4803+51A=
NM_033380.2:c.4821+51A= NP_203699.1:n.4821+51A=
XM_005262070.2:c.4812+51A= XP_005262127.1:n.4812+51A=
XM_006724616.2:c.4821+51A= XP_006724679.1:n.4821+51A=
XM_011530849.1:c.4497+51A= XP_011529151.1:n.4497+51A=
XM_011530851.1:c.2394+51A= XP_011529153.1:n.2394+51A=
XM_011530849.2:c.4836+51A= XP_011529151.2:n.4836+51A=
XM_017029259.2:c.4827+51A= XP_016884748.1:n.4827+51A=
XM_017029260.1:c.4818+51A= XP_016884749.1:n.4818+51A=
XM_017029263.2:c.3156+51A= XP_016884752.1:n.3156+51A=
NM_000495.5:c.4803+51A= NP_000486.1:n.4803+51A=
NM_033380.3:c.4821+51A= MANE Select NP_203699.1:n.4821+51A=