Canonical Allele Identifier: CA517925921
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107938127G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694897G>T , CM000685.2:g.108694897G>T GRCh38
NC_000023.10:g.107938127G>T , CM000685.1:g.107938127G>T GRCh37
NC_000023.9:g.107824783G>T NCBI36
NG_011977.1:g.259974G>T
NG_011977.2:g.259974G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4797G>T MANE Select ENSP00000331902.7:p.Leu1599=
ENST00000361603.7:c.4779G>T ENSP00000354505.2:p.Leu1593=
ENST00000510690.2:n.1291G>T
ENST00000644079.1:n.1283G>T
ENST00000328300.10:c.4797G>T ENSP00000331902.6:p.Leu1599=
ENST00000361603.6:c.4779G>T ENSP00000354505.2:p.Leu1593=
ENST00000504541.1:c.195G>T ENSP00000424845.1:p.Leu65=
ENST00000515658.1:c.325-1400G>T
NM_000495.4:c.4779G>T NP_000486.1:p.Leu1593=
NM_033380.2:c.4797G>T NP_203699.1:p.Leu1599=
XM_005262070.2:c.4788G>T XP_005262127.1:p.Leu1596=
XM_006724616.2:c.4797G>T XP_006724679.1:p.Leu1599=
XM_011530849.1:c.4473G>T XP_011529151.1:p.Leu1491=
XM_011530851.1:c.2370G>T XP_011529153.1:p.Leu790=
XM_011530849.2:c.4812G>T XP_011529151.2:p.Leu1604=
XM_017029259.2:c.4803G>T XP_016884748.1:p.Leu1601=
XM_017029260.1:c.4794G>T XP_016884749.1:p.Leu1598=
XM_017029263.2:c.3132G>T XP_016884752.1:p.Leu1044=
NM_000495.5:c.4779G>T NP_000486.1:p.Leu1593=
NM_033380.3:c.4797G>T MANE Select NP_203699.1:p.Leu1599=