Canonical Allele Identifier: CA413855261

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1005309
• ClinVar RCV Id: RCV001302160
• dbSNP Id: rs2068656815
• MyVariant Identifiers: chrX:g.107935993G>A (hg19) ; chrX:g.108692763G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108692763G>A , CM000685.2:g.108692763G>A	GRCh38
NC_000023.10:g.107935993G>A , CM000685.1:g.107935993G>A	GRCh37
NC_000023.9:g.107822649G>A	NCBI36
NG_011977.1:g.257840G>A
NG_011977.2:g.257840G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4544G>A MANE Select	ENSP00000331902.7:p.Cys1515Tyr
ENST00000361603.7:c.4526G>A	ENSP00000354505.2:p.Cys1509Tyr
ENST00000510690.2:n.1038G>A
ENST00000328300.10:c.4544G>A	ENSP00000331902.6:p.Cys1515Tyr
ENST00000361603.6:c.4526G>A	ENSP00000354505.2:p.Cys1509Tyr
ENST00000515658.1:c.325-3534G>A
NM_000495.4:c.4526G>A	NP_000486.1:p.Cys1509Tyr
NM_033380.2:c.4544G>A	NP_203699.1:p.Cys1515Tyr
XM_005262070.2:c.4535G>A	XP_005262127.1:p.Cys1512Tyr
XM_006724616.2:c.4544G>A	XP_006724679.1:p.Cys1515Tyr
XM_011530849.1:c.4220G>A	XP_011529151.1:p.Cys1407Tyr
XM_011530851.1:c.2117G>A	XP_011529153.1:p.Cys706Tyr
XM_011530849.2:c.4559G>A	XP_011529151.2:p.Cys1520Tyr
XM_017029259.2:c.4550G>A	XP_016884748.1:p.Cys1517Tyr
XM_017029260.1:c.4541G>A	XP_016884749.1:p.Cys1514Tyr
XM_017029263.2:c.2879G>A	XP_016884752.1:p.Cys960Tyr
NM_000495.5:c.4526G>A	NP_000486.1:p.Cys1509Tyr
NM_033380.3:c.4544G>A MANE Select	NP_203699.1:p.Cys1515Tyr