Canonical Allele Identifier: CA258805
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886379
MyVariant Identifiers: chrX:g.107869438A>G (hg19) chrX:g.108626208A>G (hg38)
PubMed: PMID:11462238
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108626208A>G , CM000685.2:g.108626208A>G GRCh38
NC_000023.10:g.107869438A>G , CM000685.1:g.107869438A>G GRCh37
NC_000023.9:g.107756094A>G NCBI36
NG_011977.1:g.191285A>G
NG_011977.2:g.191285A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.3107-2A>G MANE Select ENSP00000331902.7:n.3107-2A>G
ENST00000361603.7:c.3107-2A>G ENSP00000354505.2:n.3107-2A>G
ENST00000328300.10:c.3107-2A>G ENSP00000331902.6:n.3107-2A>G
ENST00000361603.6:c.3107-2A>G ENSP00000354505.2:n.3107-2A>G
ENST00000483338.1:n.2563-2A>G
ENST00000505728.1:c.340-2A>G
NM_000495.4:c.3107-2A>G NP_000486.1:n.3107-2A>G
NM_033380.2:c.3107-2A>G NP_203699.1:n.3107-2A>G
XM_005262070.2:c.3107-2A>G XP_005262127.1:n.3107-2A>G
XM_005262072.3:c.3107-2A>G XP_005262129.1:n.3107-2A>G
XM_006724616.2:c.3107-2A>G XP_006724679.1:n.3107-2A>G
XM_011530849.1:c.2783-2A>G XP_011529151.1:n.2783-2A>G
XM_011530850.1:c.3107-2A>G XP_011529152.1:n.3107-2A>G
XM_011530851.1:c.680-2A>G XP_011529153.1:n.680-2A>G
XM_011530849.2:c.3122-2A>G XP_011529151.2:n.3122-2A>G
XM_017029259.2:c.3122-2A>G XP_016884748.1:n.3122-2A>G
XM_017029260.1:c.3122-2A>G XP_016884749.1:n.3122-2A>G
XM_017029261.1:c.3122-2A>G XP_016884750.1:n.3122-2A>G
XM_017029262.2:c.3122-2A>G XP_016884751.1:n.3122-2A>G
XM_017029263.2:c.1442-2A>G XP_016884752.1:n.1442-2A>G
NM_000495.5:c.3107-2A>G NP_000486.1:n.3107-2A>G
NM_033380.3:c.3107-2A>G MANE Select NP_203699.1:n.3107-2A>G
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