Canonical Allele Identifier: CA2450722087
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108696366G= , CM000685.2:g.108696366G= GRCh38
NC_000023.10:g.107939596G= , CM000685.1:g.107939596G= GRCh37
NC_000023.9:g.107826252G= NCBI36
NG_011977.1:g.261443G=
NG_011977.2:g.261443G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.5064G= MANE Select ENSP00000331902.7:p.Met1688=
ENST00000361603.7:c.5046G= ENSP00000354505.2:p.Met1682=
ENST00000510690.2:n.1558G=
ENST00000644079.1:n.2752G=
ENST00000328300.10:c.5064G= ENSP00000331902.6:p.Met1688=
ENST00000361603.6:c.5046G= ENSP00000354505.2:p.Met1682=
ENST00000504541.1:c.289G= ENSP00000424845.1:n.289G=
ENST00000515658.1:c.394G=
NM_000495.4:c.5046G= NP_000486.1:p.Met1682=
NM_033380.2:c.5064G= NP_203699.1:p.Met1688=
XM_005262070.2:c.5055G= XP_005262127.1:p.Met1685=
XM_006724616.2:c.5064G= XP_006724679.1:p.Met1688=
XM_011530849.1:c.4740G= XP_011529151.1:p.Met1580=
XM_011530851.1:c.2637G= XP_011529153.1:p.Met879=
XM_011530849.2:c.5079G= XP_011529151.2:p.Met1693=
XM_017029259.2:c.5070G= XP_016884748.1:p.Met1690=
XM_017029260.1:c.5061G= XP_016884749.1:p.Met1687=
XM_017029263.2:c.3399G= XP_016884752.1:p.Met1133=
NM_000495.5:c.5046G= NP_000486.1:p.Met1682=
NM_033380.3:c.5064G= MANE Select NP_203699.1:p.Met1688=