Canonical Allele Identifier: CA258414
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886317
MyVariant Identifiers: chrX:g.107829978G>A (hg19) chrX:g.108586748G>A (hg38)
PubMed: PMID:8651296
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108586748G>A , CM000685.2:g.108586748G>A GRCh38
NC_000023.10:g.107829978G>A , CM000685.1:g.107829978G>A GRCh37
NC_000023.9:g.107716634G>A NCBI36
NG_011977.1:g.151825G>A
NG_011977.2:g.151825G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.1165+1G>A MANE Select ENSP00000331902.7:n.1165+1G>A
ENST00000361603.7:c.1165+1G>A ENSP00000354505.2:n.1165+1G>A
ENST00000328300.10:c.1165+1G>A ENSP00000331902.6:n.1165+1G>A
ENST00000361603.6:c.1165+1G>A ENSP00000354505.2:n.1165+1G>A
ENST00000483338.1:n.621+1G>A
NM_000495.4:c.1165+1G>A NP_000486.1:n.1165+1G>A
NM_033380.2:c.1165+1G>A NP_203699.1:n.1165+1G>A
XM_005262070.2:c.1165+1G>A XP_005262127.1:n.1165+1G>A
XM_005262072.3:c.1165+1G>A XP_005262129.1:n.1165+1G>A
XM_006724616.2:c.1165+1G>A XP_006724679.1:n.1165+1G>A
XM_011530849.1:c.841+1G>A XP_011529151.1:n.841+1G>A
XM_011530850.1:c.1165+1G>A XP_011529152.1:n.1165+1G>A
XM_011530849.2:c.1180+1G>A XP_011529151.2:n.1180+1G>A
XM_017029259.2:c.1180+1G>A XP_016884748.1:n.1180+1G>A
XM_017029260.1:c.1180+1G>A XP_016884749.1:n.1180+1G>A
XM_017029261.1:c.1180+1G>A XP_016884750.1:n.1180+1G>A
XM_017029262.2:c.1180+1G>A XP_016884751.1:n.1180+1G>A
XM_017029263.2:c.-545+1G>A XP_016884752.1:n.-545+1G>A
NM_000495.5:c.1165+1G>A NP_000486.1:n.1165+1G>A
NM_033380.3:c.1165+1G>A MANE Select NP_203699.1:n.1165+1G>A
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