Canonical Allele Identifier: CA258289

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 24300
• ClinVar RCV Id: RCV000021178 ; RCV001851986
• dbSNP Id: rs104886063
• MyVariant Identifiers: chrX:g.107821183G>A (hg19) ; chrX:g.108577953G>A (hg38)
• PubMed: PMID:12105244

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108577953G>A , CM000685.2:g.108577953G>A	GRCh38
NC_000023.10:g.107821183G>A , CM000685.1:g.107821183G>A	GRCh37
NC_000023.9:g.107707839G>A	NCBI36
NG_011977.1:g.143030G>A
NG_011977.2:g.143030G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.611G>A MANE Select	ENSP00000331902.7:p.Gly204Asp
ENST00000361603.7:c.611G>A	ENSP00000354505.2:p.Gly204Asp
ENST00000328300.10:c.611G>A	ENSP00000331902.6:p.Gly204Asp
ENST00000361603.6:c.611G>A	ENSP00000354505.2:p.Gly204Asp
NM_000495.4:c.611G>A	NP_000486.1:p.Gly204Asp
NM_033380.2:c.611G>A	NP_203699.1:p.Gly204Asp
XM_005262070.2:c.611G>A	XP_005262127.1:p.Gly204Asp
XM_005262072.3:c.611G>A	XP_005262129.1:p.Gly204Asp
XM_006724616.2:c.611G>A	XP_006724679.1:p.Gly204Asp
XM_011530849.1:c.287G>A	XP_011529151.1:p.Gly96Asp
XM_011530850.1:c.611G>A	XP_011529152.1:p.Gly204Asp
XM_011530849.2:c.626G>A	XP_011529151.2:p.Gly209Asp
XM_017029259.2:c.626G>A	XP_016884748.1:p.Gly209Asp
XM_017029260.1:c.626G>A	XP_016884749.1:p.Gly209Asp
XM_017029261.1:c.626G>A	XP_016884750.1:p.Gly209Asp
XM_017029262.2:c.626G>A	XP_016884751.1:p.Gly209Asp
NM_000495.5:c.611G>A	NP_000486.1:p.Gly204Asp
NM_033380.3:c.611G>A MANE Select	NP_203699.1:p.Gly204Asp