Canonical Allele Identifier: CA517925799
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107938100C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694870C>G , CM000685.2:g.108694870C>G GRCh38
NC_000023.10:g.107938100C>G , CM000685.1:g.107938100C>G GRCh37
NC_000023.9:g.107824756C>G NCBI36
NG_011977.1:g.259947C>G
NG_011977.2:g.259947C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4770C>G MANE Select ENSP00000331902.7:p.Pro1590=
ENST00000361603.7:c.4752C>G ENSP00000354505.2:p.Pro1584=
ENST00000510690.2:n.1264C>G
ENST00000644079.1:n.1256C>G
ENST00000328300.10:c.4770C>G ENSP00000331902.6:p.Pro1590=
ENST00000361603.6:c.4752C>G ENSP00000354505.2:p.Pro1584=
ENST00000504541.1:c.168C>G ENSP00000424845.1:p.Pro56=
ENST00000515658.1:c.325-1427C>G
NM_000495.4:c.4752C>G NP_000486.1:p.Pro1584=
NM_033380.2:c.4770C>G NP_203699.1:p.Pro1590=
XM_005262070.2:c.4761C>G XP_005262127.1:p.Pro1587=
XM_006724616.2:c.4770C>G XP_006724679.1:p.Pro1590=
XM_011530849.1:c.4446C>G XP_011529151.1:p.Pro1482=
XM_011530851.1:c.2343C>G XP_011529153.1:p.Pro781=
XM_011530849.2:c.4785C>G XP_011529151.2:p.Pro1595=
XM_017029259.2:c.4776C>G XP_016884748.1:p.Pro1592=
XM_017029260.1:c.4767C>G XP_016884749.1:p.Pro1589=
XM_017029263.2:c.3105C>G XP_016884752.1:p.Pro1035=
NM_000495.5:c.4752C>G NP_000486.1:p.Pro1584=
NM_033380.3:c.4770C>G MANE Select NP_203699.1:p.Pro1590=