Canonical Allele Identifier: CA517924010
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107929262T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108686032T>C , CM000685.2:g.108686032T>C GRCh38
NC_000023.10:g.107929262T>C , CM000685.1:g.107929262T>C GRCh37
NC_000023.9:g.107815918T>C NCBI36
NG_011977.1:g.251109T>C
NG_011977.2:g.251109T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4218T>C MANE Select ENSP00000331902.7:p.Gly1406=
ENST00000361603.7:c.4200T>C ENSP00000354505.2:p.Gly1400=
ENST00000510690.2:n.712T>C
ENST00000328300.10:c.4218T>C ENSP00000331902.6:p.Gly1406=
ENST00000361603.6:c.4200T>C ENSP00000354505.2:p.Gly1400=
ENST00000489230.1:n.621T>C
ENST00000515658.1:c.14T>C
NM_000495.4:c.4200T>C NP_000486.1:p.Gly1400=
NM_033380.2:c.4218T>C NP_203699.1:p.Gly1406=
XM_005262070.2:c.4209T>C XP_005262127.1:p.Gly1403=
XM_006724616.2:c.4218T>C XP_006724679.1:p.Gly1406=
XM_011530849.1:c.3894T>C XP_011529151.1:p.Gly1298=
XM_011530851.1:c.1791T>C XP_011529153.1:p.Gly597=
XM_011530849.2:c.4233T>C XP_011529151.2:p.Gly1411=
XM_017029259.2:c.4224T>C XP_016884748.1:p.Gly1408=
XM_017029260.1:c.4215T>C XP_016884749.1:p.Gly1405=
XM_017029263.2:c.2553T>C XP_016884752.1:p.Gly851=
NM_000495.5:c.4200T>C NP_000486.1:p.Gly1400=
NM_033380.3:c.4218T>C MANE Select NP_203699.1:p.Gly1406=