Canonical Allele Identifier: CA517923678
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107924176T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108680946T>A , CM000685.2:g.108680946T>A GRCh38
NC_000023.10:g.107924176T>A , CM000685.1:g.107924176T>A GRCh37
NC_000023.9:g.107810832T>A NCBI36
NG_011977.1:g.246023T>A
NG_011977.2:g.246023T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4077T>A MANE Select ENSP00000331902.7:p.Ile1359=
ENST00000361603.7:c.4059T>A ENSP00000354505.2:p.Ile1353=
ENST00000510690.2:n.571T>A
ENST00000328300.10:c.4077T>A ENSP00000331902.6:p.Ile1359=
ENST00000361603.6:c.4059T>A ENSP00000354505.2:p.Ile1353=
ENST00000489230.1:n.480T>A
NM_000495.4:c.4059T>A NP_000486.1:p.Ile1353=
NM_033380.2:c.4077T>A NP_203699.1:p.Ile1359=
XM_005262070.2:c.4068T>A XP_005262127.1:p.Ile1356=
XM_006724616.2:c.4077T>A XP_006724679.1:p.Ile1359=
XM_011530849.1:c.3753T>A XP_011529151.1:p.Ile1251=
XM_011530851.1:c.1650T>A XP_011529153.1:p.Ile550=
XM_011530849.2:c.4092T>A XP_011529151.2:p.Ile1364=
XM_017029259.2:c.4083T>A XP_016884748.1:p.Ile1361=
XM_017029260.1:c.4074T>A XP_016884749.1:p.Ile1358=
XM_017029263.2:c.2412T>A XP_016884752.1:p.Ile804=
NM_000495.5:c.4059T>A NP_000486.1:p.Ile1353=
NM_033380.3:c.4077T>A MANE Select NP_203699.1:p.Ile1359=