Canonical Allele Identifier: CA258300
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886437
MyVariant Identifiers: chrX:g.107821305C>A (hg19) chrX:g.108578075C>A (hg38)
PubMed: PMID:10094548
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108578075C>A , CM000685.2:g.108578075C>A GRCh38
NC_000023.10:g.107821305C>A , CM000685.1:g.107821305C>A GRCh37
NC_000023.9:g.107707961C>A NCBI36
NG_011977.1:g.143152C>A
NG_011977.2:g.143152C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.646-3C>A MANE Select ENSP00000331902.7:n.646-3C>A
ENST00000361603.7:c.646-3C>A ENSP00000354505.2:n.646-3C>A
ENST00000328300.10:c.646-3C>A ENSP00000331902.6:n.646-3C>A
ENST00000361603.6:c.646-3C>A ENSP00000354505.2:n.646-3C>A
NM_000495.4:c.646-3C>A NP_000486.1:n.646-3C>A
NM_033380.2:c.646-3C>A NP_203699.1:n.646-3C>A
XM_005262070.2:c.646-3C>A XP_005262127.1:n.646-3C>A
XM_005262072.3:c.646-3C>A XP_005262129.1:n.646-3C>A
XM_006724616.2:c.646-3C>A XP_006724679.1:n.646-3C>A
XM_011530849.1:c.322-3C>A XP_011529151.1:n.322-3C>A
XM_011530850.1:c.646-3C>A XP_011529152.1:n.646-3C>A
XM_011530849.2:c.661-3C>A XP_011529151.2:n.661-3C>A
XM_017029259.2:c.661-3C>A XP_016884748.1:n.661-3C>A
XM_017029260.1:c.661-3C>A XP_016884749.1:n.661-3C>A
XM_017029261.1:c.661-3C>A XP_016884750.1:n.661-3C>A
XM_017029262.2:c.661-3C>A XP_016884751.1:n.661-3C>A
NM_000495.5:c.646-3C>A NP_000486.1:n.646-3C>A
NM_033380.3:c.646-3C>A MANE Select NP_203699.1:n.646-3C>A
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