Canonical Allele Identifier: CA517924189

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1124112
• ClinVar RCV Id: RCV001455363
• dbSNP Id: rs2147989416
• MyVariant Identifiers: chrX:g.107929343T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686113T>A , CM000685.2:g.108686113T>A	GRCh38
NC_000023.10:g.107929343T>A , CM000685.1:g.107929343T>A	GRCh37
NC_000023.9:g.107815999T>A	NCBI36
NG_011977.1:g.251190T>A
NG_011977.2:g.251190T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4299T>A MANE Select	ENSP00000331902.7:p.Gly1433=
ENST00000361603.7:c.4281T>A	ENSP00000354505.2:p.Gly1427=
ENST00000510690.2:n.793T>A
ENST00000328300.10:c.4299T>A	ENSP00000331902.6:p.Gly1433=
ENST00000361603.6:c.4281T>A	ENSP00000354505.2:p.Gly1427=
ENST00000489230.1:n.702T>A
ENST00000515658.1:c.95T>A
NM_000495.4:c.4281T>A	NP_000486.1:p.Gly1427=
NM_033380.2:c.4299T>A	NP_203699.1:p.Gly1433=
XM_005262070.2:c.4290T>A	XP_005262127.1:p.Gly1430=
XM_006724616.2:c.4299T>A	XP_006724679.1:p.Gly1433=
XM_011530849.1:c.3975T>A	XP_011529151.1:p.Gly1325=
XM_011530851.1:c.1872T>A	XP_011529153.1:p.Gly624=
XM_011530849.2:c.4314T>A	XP_011529151.2:p.Gly1438=
XM_017029259.2:c.4305T>A	XP_016884748.1:p.Gly1435=
XM_017029260.1:c.4296T>A	XP_016884749.1:p.Gly1432=
XM_017029263.2:c.2634T>A	XP_016884752.1:p.Gly878=
NM_000495.5:c.4281T>A	NP_000486.1:p.Gly1427=
NM_033380.3:c.4299T>A MANE Select	NP_203699.1:p.Gly1433=