Canonical Allele Identifier: CA2450721593
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694869C= , CM000685.2:g.108694869C= GRCh38
NC_000023.10:g.107938099C= , CM000685.1:g.107938099C= GRCh37
NC_000023.9:g.107824755C= NCBI36
NG_011977.1:g.259946C=
NG_011977.2:g.259946C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4769C= MANE Select ENSP00000331902.7:p.Pro1590=
ENST00000361603.7:c.4751C= ENSP00000354505.2:p.Pro1584=
ENST00000510690.2:n.1263C=
ENST00000644079.1:n.1255C=
ENST00000328300.10:c.4769C= ENSP00000331902.6:p.Pro1590=
ENST00000361603.6:c.4751C= ENSP00000354505.2:p.Pro1584=
ENST00000504541.1:c.167C= ENSP00000424845.1:p.Pro56=
ENST00000515658.1:c.325-1428C=
NM_000495.4:c.4751C= NP_000486.1:p.Pro1584=
NM_033380.2:c.4769C= NP_203699.1:p.Pro1590=
XM_005262070.2:c.4760C= XP_005262127.1:p.Pro1587=
XM_006724616.2:c.4769C= XP_006724679.1:p.Pro1590=
XM_011530849.1:c.4445C= XP_011529151.1:p.Pro1482=
XM_011530851.1:c.2342C= XP_011529153.1:p.Pro781=
XM_011530849.2:c.4784C= XP_011529151.2:p.Pro1595=
XM_017029259.2:c.4775C= XP_016884748.1:p.Pro1592=
XM_017029260.1:c.4766C= XP_016884749.1:p.Pro1589=
XM_017029263.2:c.3104C= XP_016884752.1:p.Pro1035=
NM_000495.5:c.4751C= NP_000486.1:p.Pro1584=
NM_033380.3:c.4769C= MANE Select NP_203699.1:p.Pro1590=