Canonical Allele Identifier: CA517923836
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107925057A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108681827A>C , CM000685.2:g.108681827A>C GRCh38
NC_000023.10:g.107925057A>C , CM000685.1:g.107925057A>C GRCh37
NC_000023.9:g.107811713A>C NCBI36
NG_011977.1:g.246904A>C
NG_011977.2:g.246904A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4155A>C MANE Select ENSP00000331902.7:p.Gly1385=
ENST00000361603.7:c.4137A>C ENSP00000354505.2:p.Gly1379=
ENST00000510690.2:n.649A>C
ENST00000328300.10:c.4155A>C ENSP00000331902.6:p.Gly1385=
ENST00000361603.6:c.4137A>C ENSP00000354505.2:p.Gly1379=
ENST00000489230.1:n.558A>C
NM_000495.4:c.4137A>C NP_000486.1:p.Gly1379=
NM_033380.2:c.4155A>C NP_203699.1:p.Gly1385=
XM_005262070.2:c.4146A>C XP_005262127.1:p.Gly1382=
XM_006724616.2:c.4155A>C XP_006724679.1:p.Gly1385=
XM_011530849.1:c.3831A>C XP_011529151.1:p.Gly1277=
XM_011530851.1:c.1728A>C XP_011529153.1:p.Gly576=
XM_011530849.2:c.4170A>C XP_011529151.2:p.Gly1390=
XM_017029259.2:c.4161A>C XP_016884748.1:p.Gly1387=
XM_017029260.1:c.4152A>C XP_016884749.1:p.Gly1384=
XM_017029263.2:c.2490A>C XP_016884752.1:p.Gly830=
NM_000495.5:c.4137A>C NP_000486.1:p.Gly1379=
NM_033380.3:c.4155A>C MANE Select NP_203699.1:p.Gly1385=