Canonical Allele Identifier: CA2450722089
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108696373A= , CM000685.2:g.108696373A= GRCh38
NC_000023.10:g.107939603A= , CM000685.1:g.107939603A= GRCh37
NC_000023.9:g.107826259A= NCBI36
NG_011977.1:g.261450A=
NG_011977.2:g.261450A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.5071A= MANE Select ENSP00000331902.7:p.Thr1691=
ENST00000361603.7:c.5053A= ENSP00000354505.2:p.Thr1685=
ENST00000510690.2:n.1565A=
ENST00000644079.1:n.2759A=
ENST00000328300.10:c.5071A= ENSP00000331902.6:p.Thr1691=
ENST00000361603.6:c.5053A= ENSP00000354505.2:p.Thr1685=
ENST00000504541.1:c.296A= ENSP00000424845.1:n.296A=
ENST00000515658.1:c.401A=
NM_000495.4:c.5053A= NP_000486.1:p.Thr1685=
NM_033380.2:c.5071A= NP_203699.1:p.Thr1691=
XM_005262070.2:c.5062A= XP_005262127.1:p.Thr1688=
XM_006724616.2:c.5071A= XP_006724679.1:p.Thr1691=
XM_011530849.1:c.4747A= XP_011529151.1:p.Thr1583=
XM_011530851.1:c.2644A= XP_011529153.1:p.Thr882=
XM_011530849.2:c.5086A= XP_011529151.2:p.Thr1696=
XM_017029259.2:c.5077A= XP_016884748.1:p.Thr1693=
XM_017029260.1:c.5068A= XP_016884749.1:p.Thr1690=
XM_017029263.2:c.3406A= XP_016884752.1:p.Thr1136=
NM_000495.5:c.5053A= NP_000486.1:p.Thr1685=
NM_033380.3:c.5071A= MANE Select NP_203699.1:p.Thr1691=