Canonical Allele Identifier: CA517923358
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107920809T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108677579T>A , CM000685.2:g.108677579T>A GRCh38
NC_000023.10:g.107920809T>A , CM000685.1:g.107920809T>A GRCh37
NC_000023.9:g.107807465T>A NCBI36
NG_011977.1:g.242656T>A
NG_011977.2:g.242656T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.3888T>A MANE Select ENSP00000331902.7:p.Pro1296=
ENST00000361603.7:c.3870T>A ENSP00000354505.2:p.Pro1290=
ENST00000510690.2:n.382T>A
ENST00000328300.10:c.3888T>A ENSP00000331902.6:p.Pro1296=
ENST00000361603.6:c.3870T>A ENSP00000354505.2:p.Pro1290=
ENST00000489230.1:n.291T>A
ENST00000510690.1:n.382T>A
NM_000495.4:c.3870T>A NP_000486.1:p.Pro1290=
NM_033380.2:c.3888T>A NP_203699.1:p.Pro1296=
XM_005262070.2:c.3879T>A XP_005262127.1:p.Pro1293=
XM_006724616.2:c.3888T>A XP_006724679.1:p.Pro1296=
XM_011530849.1:c.3564T>A XP_011529151.1:p.Pro1188=
XM_011530851.1:c.1461T>A XP_011529153.1:p.Pro487=
XM_011530849.2:c.3903T>A XP_011529151.2:p.Pro1301=
XM_017029259.2:c.3894T>A XP_016884748.1:p.Pro1298=
XM_017029260.1:c.3885T>A XP_016884749.1:p.Pro1295=
XM_017029261.1:c.3903T>A XP_016884750.1:p.Pro1301=
XM_017029263.2:c.2223T>A XP_016884752.1:p.Pro741=
NM_000495.5:c.3870T>A NP_000486.1:p.Pro1290=
NM_033380.3:c.3888T>A MANE Select NP_203699.1:p.Pro1296=