Canonical Allele Identifier: CA517924214

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107929352A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686122A>T , CM000685.2:g.108686122A>T	GRCh38
NC_000023.10:g.107929352A>T , CM000685.1:g.107929352A>T	GRCh37
NC_000023.9:g.107816008A>T	NCBI36
NG_011977.1:g.251199A>T
NG_011977.2:g.251199A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4308A>T MANE Select	ENSP00000331902.7:p.Gly1436=
ENST00000361603.7:c.4290A>T	ENSP00000354505.2:p.Gly1430=
ENST00000510690.2:n.802A>T
ENST00000328300.10:c.4308A>T	ENSP00000331902.6:p.Gly1436=
ENST00000361603.6:c.4290A>T	ENSP00000354505.2:p.Gly1430=
ENST00000489230.1:n.711A>T
ENST00000515658.1:c.104A>T
NM_000495.4:c.4290A>T	NP_000486.1:p.Gly1430=
NM_033380.2:c.4308A>T	NP_203699.1:p.Gly1436=
XM_005262070.2:c.4299A>T	XP_005262127.1:p.Gly1433=
XM_006724616.2:c.4308A>T	XP_006724679.1:p.Gly1436=
XM_011530849.1:c.3984A>T	XP_011529151.1:p.Gly1328=
XM_011530851.1:c.1881A>T	XP_011529153.1:p.Gly627=
XM_011530849.2:c.4323A>T	XP_011529151.2:p.Gly1441=
XM_017029259.2:c.4314A>T	XP_016884748.1:p.Gly1438=
XM_017029260.1:c.4305A>T	XP_016884749.1:p.Gly1435=
XM_017029263.2:c.2643A>T	XP_016884752.1:p.Gly881=
NM_000495.5:c.4290A>T	NP_000486.1:p.Gly1430=
NM_033380.3:c.4308A>T MANE Select	NP_203699.1:p.Gly1436=