Canonical Allele Identifier: CA517924224
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107929358A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108686128A>G , CM000685.2:g.108686128A>G GRCh38
NC_000023.10:g.107929358A>G , CM000685.1:g.107929358A>G GRCh37
NC_000023.9:g.107816014A>G NCBI36
NG_011977.1:g.251205A>G
NG_011977.2:g.251205A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4314A>G MANE Select ENSP00000331902.7:p.Pro1438=
ENST00000361603.7:c.4296A>G ENSP00000354505.2:p.Pro1432=
ENST00000510690.2:n.808A>G
ENST00000328300.10:c.4314A>G ENSP00000331902.6:p.Pro1438=
ENST00000361603.6:c.4296A>G ENSP00000354505.2:p.Pro1432=
ENST00000489230.1:n.717A>G
ENST00000515658.1:c.110A>G
NM_000495.4:c.4296A>G NP_000486.1:p.Pro1432=
NM_033380.2:c.4314A>G NP_203699.1:p.Pro1438=
XM_005262070.2:c.4305A>G XP_005262127.1:p.Pro1435=
XM_006724616.2:c.4314A>G XP_006724679.1:p.Pro1438=
XM_011530849.1:c.3990A>G XP_011529151.1:p.Pro1330=
XM_011530851.1:c.1887A>G XP_011529153.1:p.Pro629=
XM_011530849.2:c.4329A>G XP_011529151.2:p.Pro1443=
XM_017029259.2:c.4320A>G XP_016884748.1:p.Pro1440=
XM_017029260.1:c.4311A>G XP_016884749.1:p.Pro1437=
XM_017029263.2:c.2649A>G XP_016884752.1:p.Pro883=
NM_000495.5:c.4296A>G NP_000486.1:p.Pro1432=
NM_033380.3:c.4314A>G MANE Select NP_203699.1:p.Pro1438=