Canonical Allele Identifier: CA517923284
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107920743A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108677513A>G , CM000685.2:g.108677513A>G GRCh38
NC_000023.10:g.107920743A>G , CM000685.1:g.107920743A>G GRCh37
NC_000023.9:g.107807399A>G NCBI36
NG_011977.1:g.242590A>G
NG_011977.2:g.242590A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.3822A>G MANE Select ENSP00000331902.7:p.Pro1274=
ENST00000361603.7:c.3804A>G ENSP00000354505.2:p.Pro1268=
ENST00000510690.2:n.316A>G
ENST00000328300.10:c.3822A>G ENSP00000331902.6:p.Pro1274=
ENST00000361603.6:c.3804A>G ENSP00000354505.2:p.Pro1268=
ENST00000489230.1:n.225A>G
ENST00000510690.1:n.316A>G
NM_000495.4:c.3804A>G NP_000486.1:p.Pro1268=
NM_033380.2:c.3822A>G NP_203699.1:p.Pro1274=
XM_005262070.2:c.3813A>G XP_005262127.1:p.Pro1271=
XM_006724616.2:c.3822A>G XP_006724679.1:p.Pro1274=
XM_011530849.1:c.3498A>G XP_011529151.1:p.Pro1166=
XM_011530851.1:c.1395A>G XP_011529153.1:p.Pro465=
XM_011530849.2:c.3837A>G XP_011529151.2:p.Pro1279=
XM_017029259.2:c.3828A>G XP_016884748.1:p.Pro1276=
XM_017029260.1:c.3819A>G XP_016884749.1:p.Pro1273=
XM_017029261.1:c.3837A>G XP_016884750.1:p.Pro1279=
XM_017029263.2:c.2157A>G XP_016884752.1:p.Pro719=
NM_000495.5:c.3804A>G NP_000486.1:p.Pro1268=
NM_033380.3:c.3822A>G MANE Select NP_203699.1:p.Pro1274=