Canonical Allele Identifier: CA413845521

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1725104
• ClinVar RCV Id: RCV002308163
• MyVariant Identifiers: chrX:g.107840767T>A (hg19) ; chrX:g.108597537T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108597537T>A , CM000685.2:g.108597537T>A	GRCh38
NC_000023.10:g.107840767T>A , CM000685.1:g.107840767T>A	GRCh37
NC_000023.9:g.107727423T>A	NCBI36
NG_011977.1:g.162614T>A
NG_011977.2:g.162614T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1748T>A MANE Select	ENSP00000331902.7:p.Leu583Ter
ENST00000361603.7:c.1748T>A	ENSP00000354505.2:p.Leu583Ter
ENST00000328300.10:c.1748T>A	ENSP00000331902.6:p.Leu583Ter
ENST00000361603.6:c.1748T>A	ENSP00000354505.2:p.Leu583Ter
ENST00000483338.1:n.1204T>A
NM_000495.4:c.1748T>A	NP_000486.1:p.Leu583Ter
NM_033380.2:c.1748T>A	NP_203699.1:p.Leu583Ter
XM_005262070.2:c.1748T>A	XP_005262127.1:p.Leu583Ter
XM_005262072.3:c.1748T>A	XP_005262129.1:p.Leu583Ter
XM_006724616.2:c.1748T>A	XP_006724679.1:p.Leu583Ter
XM_011530849.1:c.1424T>A	XP_011529151.1:p.Leu475Ter
XM_011530850.1:c.1748T>A	XP_011529152.1:p.Leu583Ter
XM_011530849.2:c.1763T>A	XP_011529151.2:p.Leu588Ter
XM_017029259.2:c.1763T>A	XP_016884748.1:p.Leu588Ter
XM_017029260.1:c.1763T>A	XP_016884749.1:p.Leu588Ter
XM_017029261.1:c.1763T>A	XP_016884750.1:p.Leu588Ter
XM_017029262.2:c.1763T>A	XP_016884751.1:p.Leu588Ter
XM_017029263.2:c.83T>A	XP_016884752.1:p.Leu28Ter
NM_000495.5:c.1748T>A	NP_000486.1:p.Leu583Ter
NM_033380.3:c.1748T>A MANE Select	NP_203699.1:p.Leu583Ter