Canonical Allele Identifier: CA517926114
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107938577C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695347C>G , CM000685.2:g.108695347C>G GRCh38
NC_000023.10:g.107938577C>G , CM000685.1:g.107938577C>G GRCh37
NC_000023.9:g.107825233C>G NCBI36
NG_011977.1:g.260424C>G
NG_011977.2:g.260424C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4902C>G MANE Select ENSP00000331902.7:p.Pro1634=
ENST00000361603.7:c.4884C>G ENSP00000354505.2:p.Pro1628=
ENST00000510690.2:n.1396C>G
ENST00000644079.1:n.1733C>G
ENST00000328300.10:c.4902C>G ENSP00000331902.6:p.Pro1634=
ENST00000361603.6:c.4884C>G ENSP00000354505.2:p.Pro1628=
ENST00000504541.1:c.219+426C>G ENSP00000424845.1:n.219+426C>G
ENST00000515658.1:c.325-950C>G
NM_000495.4:c.4884C>G NP_000486.1:p.Pro1628=
NM_033380.2:c.4902C>G NP_203699.1:p.Pro1634=
XM_005262070.2:c.4893C>G XP_005262127.1:p.Pro1631=
XM_006724616.2:c.4902C>G XP_006724679.1:p.Pro1634=
XM_011530849.1:c.4578C>G XP_011529151.1:p.Pro1526=
XM_011530851.1:c.2475C>G XP_011529153.1:p.Pro825=
XM_011530849.2:c.4917C>G XP_011529151.2:p.Pro1639=
XM_017029259.2:c.4908C>G XP_016884748.1:p.Pro1636=
XM_017029260.1:c.4899C>G XP_016884749.1:p.Pro1633=
XM_017029263.2:c.3237C>G XP_016884752.1:p.Pro1079=
NM_000495.5:c.4884C>G NP_000486.1:p.Pro1628=
NM_033380.3:c.4902C>G MANE Select NP_203699.1:p.Pro1634=