Canonical Allele Identifier: CA517925728
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107938085G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694855G>A , CM000685.2:g.108694855G>A GRCh38
NC_000023.10:g.107938085G>A , CM000685.1:g.107938085G>A GRCh37
NC_000023.9:g.107824741G>A NCBI36
NG_011977.1:g.259932G>A
NG_011977.2:g.259932G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4755G>A MANE Select ENSP00000331902.7:p.Gln1585=
ENST00000361603.7:c.4737G>A ENSP00000354505.2:p.Gln1579=
ENST00000510690.2:n.1249G>A
ENST00000644079.1:n.1241G>A
ENST00000328300.10:c.4755G>A ENSP00000331902.6:p.Gln1585=
ENST00000361603.6:c.4737G>A ENSP00000354505.2:p.Gln1579=
ENST00000504541.1:c.153G>A ENSP00000424845.1:p.Gln51=
ENST00000515658.1:c.325-1442G>A
NM_000495.4:c.4737G>A NP_000486.1:p.Gln1579=
NM_033380.2:c.4755G>A NP_203699.1:p.Gln1585=
XM_005262070.2:c.4746G>A XP_005262127.1:p.Gln1582=
XM_006724616.2:c.4755G>A XP_006724679.1:p.Gln1585=
XM_011530849.1:c.4431G>A XP_011529151.1:p.Gln1477=
XM_011530851.1:c.2328G>A XP_011529153.1:p.Gln776=
XM_011530849.2:c.4770G>A XP_011529151.2:p.Gln1590=
XM_017029259.2:c.4761G>A XP_016884748.1:p.Gln1587=
XM_017029260.1:c.4752G>A XP_016884749.1:p.Gln1584=
XM_017029263.2:c.3090G>A XP_016884752.1:p.Gln1030=
NM_000495.5:c.4737G>A NP_000486.1:p.Gln1579=
NM_033380.3:c.4755G>A MANE Select NP_203699.1:p.Gln1585=