Canonical Allele Identifier: CA2450721609
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694908A= , CM000685.2:g.108694908A= GRCh38
NC_000023.10:g.107938138A= , CM000685.1:g.107938138A= GRCh37
NC_000023.9:g.107824794A= NCBI36
NG_011977.1:g.259985A=
NG_011977.2:g.259985A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4808A= MANE Select ENSP00000331902.7:p.Tyr1603=
ENST00000361603.7:c.4790A= ENSP00000354505.2:p.Tyr1597=
ENST00000510690.2:n.1302A=
ENST00000644079.1:n.1294A=
ENST00000328300.10:c.4808A= ENSP00000331902.6:p.Tyr1603=
ENST00000361603.6:c.4790A= ENSP00000354505.2:p.Tyr1597=
ENST00000504541.1:c.206A= ENSP00000424845.1:p.Tyr69=
ENST00000515658.1:c.325-1389A=
NM_000495.4:c.4790A= NP_000486.1:p.Tyr1597=
NM_033380.2:c.4808A= NP_203699.1:p.Tyr1603=
XM_005262070.2:c.4799A= XP_005262127.1:p.Tyr1600=
XM_006724616.2:c.4808A= XP_006724679.1:p.Tyr1603=
XM_011530849.1:c.4484A= XP_011529151.1:p.Tyr1495=
XM_011530851.1:c.2381A= XP_011529153.1:p.Tyr794=
XM_011530849.2:c.4823A= XP_011529151.2:p.Tyr1608=
XM_017029259.2:c.4814A= XP_016884748.1:p.Tyr1605=
XM_017029260.1:c.4805A= XP_016884749.1:p.Tyr1602=
XM_017029263.2:c.3143A= XP_016884752.1:p.Tyr1048=
NM_000495.5:c.4790A= NP_000486.1:p.Tyr1597=
NM_033380.3:c.4808A= MANE Select NP_203699.1:p.Tyr1603=