Canonical Allele Identifier: CA2450687757
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108595579G= , CM000685.2:g.108595579G= GRCh38
NC_000023.10:g.107838809G= , CM000685.1:g.107838809G= GRCh37
NC_000023.9:g.107725465G= NCBI36
NG_011977.1:g.160656G=
NG_011977.2:g.160656G=

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.1494G= MANE Select ENSP00000331902.7:p.Leu498=
ENST00000361603.7:c.1494G= ENSP00000354505.2:p.Leu498=
ENST00000328300.10:c.1494G= ENSP00000331902.6:p.Leu498=
ENST00000361603.6:c.1494G= ENSP00000354505.2:p.Leu498=
ENST00000483338.1:n.950G=
NM_000495.4:c.1494G= NP_000486.1:p.Leu498=
NM_033380.2:c.1494G= NP_203699.1:p.Leu498=
XM_005262070.2:c.1494G= XP_005262127.1:p.Leu498=
XM_005262072.3:c.1494G= XP_005262129.1:p.Leu498=
XM_006724616.2:c.1494G= XP_006724679.1:p.Leu498=
XM_011530849.1:c.1170G= XP_011529151.1:p.Leu390=
XM_011530850.1:c.1494G= XP_011529152.1:p.Leu498=
XM_011530849.2:c.1509G= XP_011529151.2:p.Leu503=
XM_017029259.2:c.1509G= XP_016884748.1:p.Leu503=
XM_017029260.1:c.1509G= XP_016884749.1:p.Leu503=
XM_017029261.1:c.1509G= XP_016884750.1:p.Leu503=
XM_017029262.2:c.1509G= XP_016884751.1:p.Leu503=
XM_017029263.2:c.-172G= XP_016884752.1:n.-172G=
NM_000495.5:c.1494G= NP_000486.1:p.Leu498=
NM_033380.3:c.1494G= MANE Select NP_203699.1:p.Leu498=