Canonical Allele Identifier: CA517925609
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107938058A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694828A>C , CM000685.2:g.108694828A>C GRCh38
NC_000023.10:g.107938058A>C , CM000685.1:g.107938058A>C GRCh37
NC_000023.9:g.107824714A>C NCBI36
NG_011977.1:g.259905A>C
NG_011977.2:g.259905A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4728A>C MANE Select ENSP00000331902.7:p.Pro1576=
ENST00000361603.7:c.4710A>C ENSP00000354505.2:p.Pro1570=
ENST00000510690.2:n.1222A>C
ENST00000644079.1:n.1214A>C
ENST00000328300.10:c.4728A>C ENSP00000331902.6:p.Pro1576=
ENST00000361603.6:c.4710A>C ENSP00000354505.2:p.Pro1570=
ENST00000504541.1:c.126A>C ENSP00000424845.1:p.Pro42=
ENST00000515658.1:c.325-1469A>C
NM_000495.4:c.4710A>C NP_000486.1:p.Pro1570=
NM_033380.2:c.4728A>C NP_203699.1:p.Pro1576=
XM_005262070.2:c.4719A>C XP_005262127.1:p.Pro1573=
XM_006724616.2:c.4728A>C XP_006724679.1:p.Pro1576=
XM_011530849.1:c.4404A>C XP_011529151.1:p.Pro1468=
XM_011530851.1:c.2301A>C XP_011529153.1:p.Pro767=
XM_011530849.2:c.4743A>C XP_011529151.2:p.Pro1581=
XM_017029259.2:c.4734A>C XP_016884748.1:p.Pro1578=
XM_017029260.1:c.4725A>C XP_016884749.1:p.Pro1575=
XM_017029263.2:c.3063A>C XP_016884752.1:p.Pro1021=
NM_000495.5:c.4710A>C NP_000486.1:p.Pro1570=
NM_033380.3:c.4728A>C MANE Select NP_203699.1:p.Pro1576=