Canonical Allele Identifier: CA517924548
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107930797A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687567A>C , CM000685.2:g.108687567A>C GRCh38
NC_000023.10:g.107930797A>C , CM000685.1:g.107930797A>C GRCh37
NC_000023.9:g.107817453A>C NCBI36
NG_011977.1:g.252644A>C
NG_011977.2:g.252644A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4401A>C MANE Select ENSP00000331902.7:p.Gly1467=
ENST00000361603.7:c.4383A>C ENSP00000354505.2:p.Gly1461=
ENST00000510690.2:n.895A>C
ENST00000328300.10:c.4401A>C ENSP00000331902.6:p.Gly1467=
ENST00000361603.6:c.4383A>C ENSP00000354505.2:p.Gly1461=
ENST00000515658.1:c.197A>C
NM_000495.4:c.4383A>C NP_000486.1:p.Gly1461=
NM_033380.2:c.4401A>C NP_203699.1:p.Gly1467=
XM_005262070.2:c.4392A>C XP_005262127.1:p.Gly1464=
XM_006724616.2:c.4401A>C XP_006724679.1:p.Gly1467=
XM_011530849.1:c.4077A>C XP_011529151.1:p.Gly1359=
XM_011530851.1:c.1974A>C XP_011529153.1:p.Gly658=
XM_011530849.2:c.4416A>C XP_011529151.2:p.Gly1472=
XM_017029259.2:c.4407A>C XP_016884748.1:p.Gly1469=
XM_017029260.1:c.4398A>C XP_016884749.1:p.Gly1466=
XM_017029263.2:c.2736A>C XP_016884752.1:p.Gly912=
NM_000495.5:c.4383A>C NP_000486.1:p.Gly1461=
NM_033380.3:c.4401A>C MANE Select NP_203699.1:p.Gly1467=