Canonical Allele Identifier: CA258220
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886367
MyVariant Identifiers: chrX:g.107811858G>T (hg19) chrX:g.108568628G>T (hg38)
PubMed: PMID:10094548
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108568628G>T , CM000685.2:g.108568628G>T GRCh38
NC_000023.10:g.107811858G>T , CM000685.1:g.107811858G>T GRCh37
NC_000023.9:g.107698514G>T NCBI36
NG_011977.1:g.133705G>T
NG_011977.2:g.133705G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.277-1G>T MANE Select ENSP00000331902.7:n.277-1G>T
ENST00000361603.7:c.277-1G>T ENSP00000354505.2:n.277-1G>T
ENST00000328300.10:c.277-1G>T ENSP00000331902.6:n.277-1G>T
ENST00000361603.6:c.277-1G>T ENSP00000354505.2:n.277-1G>T
ENST00000470339.1:n.461-1G>T
NM_000495.4:c.277-1G>T NP_000486.1:n.277-1G>T
NM_033380.2:c.277-1G>T NP_203699.1:n.277-1G>T
XM_005262070.2:c.277-1G>T XP_005262127.1:n.277-1G>T
XM_005262072.3:c.277-1G>T XP_005262129.1:n.277-1G>T
XM_006724616.2:c.277-1G>T XP_006724679.1:n.277-1G>T
XM_011530849.1:c.-48-1G>T XP_011529151.1:n.-48-1G>T
XM_011530850.1:c.277-1G>T XP_011529152.1:n.277-1G>T
XM_011530849.2:c.292-1G>T XP_011529151.2:n.292-1G>T
XM_017029259.2:c.292-1G>T XP_016884748.1:n.292-1G>T
XM_017029260.1:c.292-1G>T XP_016884749.1:n.292-1G>T
XM_017029261.1:c.292-1G>T XP_016884750.1:n.292-1G>T
XM_017029262.2:c.292-1G>T XP_016884751.1:n.292-1G>T
NM_000495.5:c.277-1G>T NP_000486.1:n.277-1G>T
NM_033380.3:c.277-1G>T MANE Select NP_203699.1:n.277-1G>T
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