Canonical Allele Identifier: CA517923873
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107925096C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108681866C>A , CM000685.2:g.108681866C>A GRCh38
NC_000023.10:g.107925096C>A , CM000685.1:g.107925096C>A GRCh37
NC_000023.9:g.107811752C>A NCBI36
NG_011977.1:g.246943C>A
NG_011977.2:g.246943C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4194C>A MANE Select ENSP00000331902.7:p.Pro1398=
ENST00000361603.7:c.4176C>A ENSP00000354505.2:p.Pro1392=
ENST00000510690.2:n.688C>A
ENST00000328300.10:c.4194C>A ENSP00000331902.6:p.Pro1398=
ENST00000361603.6:c.4176C>A ENSP00000354505.2:p.Pro1392=
ENST00000489230.1:n.597C>A
NM_000495.4:c.4176C>A NP_000486.1:p.Pro1392=
NM_033380.2:c.4194C>A NP_203699.1:p.Pro1398=
XM_005262070.2:c.4185C>A XP_005262127.1:p.Pro1395=
XM_006724616.2:c.4194C>A XP_006724679.1:p.Pro1398=
XM_011530849.1:c.3870C>A XP_011529151.1:p.Pro1290=
XM_011530851.1:c.1767C>A XP_011529153.1:p.Pro589=
XM_011530849.2:c.4209C>A XP_011529151.2:p.Pro1403=
XM_017029259.2:c.4200C>A XP_016884748.1:p.Pro1400=
XM_017029260.1:c.4191C>A XP_016884749.1:p.Pro1397=
XM_017029263.2:c.2529C>A XP_016884752.1:p.Pro843=
NM_000495.5:c.4176C>A NP_000486.1:p.Pro1392=
NM_033380.3:c.4194C>A MANE Select NP_203699.1:p.Pro1398=