Canonical Allele Identifier: CA259157
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886311
MyVariant Identifiers: chrX:g.107939584T>G (hg19) chrX:g.108696354T>G (hg38)
PubMed: PMID:10561141
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108696354T>G , CM000685.2:g.108696354T>G GRCh38
NC_000023.10:g.107939584T>G , CM000685.1:g.107939584T>G GRCh37
NC_000023.9:g.107826240T>G NCBI36
NG_011977.1:g.261431T>G
NG_011977.2:g.261431T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.5052T>G MANE Select ENSP00000331902.7:p.Cys1684Trp
ENST00000361603.7:c.5034T>G ENSP00000354505.2:p.Cys1678Trp
ENST00000510690.2:n.1546T>G
ENST00000644079.1:n.2740T>G
ENST00000328300.10:c.5052T>G ENSP00000331902.6:p.Cys1684Trp
ENST00000361603.6:c.5034T>G ENSP00000354505.2:p.Cys1678Trp
ENST00000504541.1:c.277T>G ENSP00000424845.1:n.277T>G
ENST00000515658.1:c.382T>G
NM_000495.4:c.5034T>G NP_000486.1:p.Cys1678Trp
NM_033380.2:c.5052T>G NP_203699.1:p.Cys1684Trp
XM_005262070.2:c.5043T>G XP_005262127.1:p.Cys1681Trp
XM_006724616.2:c.5052T>G XP_006724679.1:p.Cys1684Trp
XM_011530849.1:c.4728T>G XP_011529151.1:p.Cys1576Trp
XM_011530851.1:c.2625T>G XP_011529153.1:p.Cys875Trp
XM_011530849.2:c.5067T>G XP_011529151.2:p.Cys1689Trp
XM_017029259.2:c.5058T>G XP_016884748.1:p.Cys1686Trp
XM_017029260.1:c.5049T>G XP_016884749.1:p.Cys1683Trp
XM_017029263.2:c.3387T>G XP_016884752.1:p.Cys1129Trp
NM_000495.5:c.5034T>G NP_000486.1:p.Cys1678Trp
NM_033380.3:c.5052T>G MANE Select NP_203699.1:p.Cys1684Trp
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