Canonical Allele Identifier: CA259055
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886284
MyVariant Identifiers: chrX:g.107930907C>A (hg19) chrX:g.108687677C>A (hg38)
PubMed: PMID:9195222
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687677C>A , CM000685.2:g.108687677C>A GRCh38
NC_000023.10:g.107930907C>A , CM000685.1:g.107930907C>A GRCh37
NC_000023.9:g.107817563C>A NCBI36
NG_011977.1:g.252754C>A
NG_011977.2:g.252754C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4511C>A MANE Select ENSP00000331902.7:p.Ala1504Asp
ENST00000361603.7:c.4493C>A ENSP00000354505.2:p.Ala1498Asp
ENST00000510690.2:n.1005C>A
ENST00000328300.10:c.4511C>A ENSP00000331902.6:p.Ala1504Asp
ENST00000361603.6:c.4493C>A ENSP00000354505.2:p.Ala1498Asp
ENST00000515658.1:c.307C>A
NM_000495.4:c.4493C>A NP_000486.1:p.Ala1498Asp
NM_033380.2:c.4511C>A NP_203699.1:p.Ala1504Asp
XM_005262070.2:c.4502C>A XP_005262127.1:p.Ala1501Asp
XM_006724616.2:c.4511C>A XP_006724679.1:p.Ala1504Asp
XM_011530849.1:c.4187C>A XP_011529151.1:p.Ala1396Asp
XM_011530851.1:c.2084C>A XP_011529153.1:p.Ala695Asp
XM_011530849.2:c.4526C>A XP_011529151.2:p.Ala1509Asp
XM_017029259.2:c.4517C>A XP_016884748.1:p.Ala1506Asp
XM_017029260.1:c.4508C>A XP_016884749.1:p.Ala1503Asp
XM_017029263.2:c.2846C>A XP_016884752.1:p.Ala949Asp
NM_000495.5:c.4493C>A NP_000486.1:p.Ala1498Asp
NM_033380.3:c.4511C>A MANE Select NP_203699.1:p.Ala1504Asp
Search 100 bp 5'
Search 100 bp 3'