Canonical Allele Identifier: CA517925030
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107935985T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108692755T>G , CM000685.2:g.108692755T>G GRCh38
NC_000023.10:g.107935985T>G , CM000685.1:g.107935985T>G GRCh37
NC_000023.9:g.107822641T>G NCBI36
NG_011977.1:g.257832T>G
NG_011977.2:g.257832T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4536T>G MANE Select ENSP00000331902.7:p.Ala1512=
ENST00000361603.7:c.4518T>G ENSP00000354505.2:p.Ala1506=
ENST00000510690.2:n.1030T>G
ENST00000328300.10:c.4536T>G ENSP00000331902.6:p.Ala1512=
ENST00000361603.6:c.4518T>G ENSP00000354505.2:p.Ala1506=
ENST00000515658.1:c.325-3542T>G
NM_000495.4:c.4518T>G NP_000486.1:p.Ala1506=
NM_033380.2:c.4536T>G NP_203699.1:p.Ala1512=
XM_005262070.2:c.4527T>G XP_005262127.1:p.Ala1509=
XM_006724616.2:c.4536T>G XP_006724679.1:p.Ala1512=
XM_011530849.1:c.4212T>G XP_011529151.1:p.Ala1404=
XM_011530851.1:c.2109T>G XP_011529153.1:p.Ala703=
XM_011530849.2:c.4551T>G XP_011529151.2:p.Ala1517=
XM_017029259.2:c.4542T>G XP_016884748.1:p.Ala1514=
XM_017029260.1:c.4533T>G XP_016884749.1:p.Ala1511=
XM_017029263.2:c.2871T>G XP_016884752.1:p.Ala957=
NM_000495.5:c.4518T>G NP_000486.1:p.Ala1506=
NM_033380.3:c.4536T>G MANE Select NP_203699.1:p.Ala1512=