Canonical Allele Identifier: CA517926125

Gene: COL4A5

Linked Data

• gnomAD v4: X-108695368-G-A
• MyVariant Identifiers: chrX:g.107938598G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695368G>A , CM000685.2:g.108695368G>A	GRCh38
NC_000023.10:g.107938598G>A , CM000685.1:g.107938598G>A	GRCh37
NC_000023.9:g.107825254G>A	NCBI36
NG_011977.1:g.260445G>A
NG_011977.2:g.260445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4923G>A MANE Select	ENSP00000331902.7:p.Arg1641=
ENST00000361603.7:c.4905G>A	ENSP00000354505.2:p.Arg1635=
ENST00000510690.2:n.1417G>A
ENST00000644079.1:n.1754G>A
ENST00000328300.10:c.4923G>A	ENSP00000331902.6:p.Arg1641=
ENST00000361603.6:c.4905G>A	ENSP00000354505.2:p.Arg1635=
ENST00000504541.1:c.219+447G>A	ENSP00000424845.1:n.219+447G>A
ENST00000515658.1:c.325-929G>A
NM_000495.4:c.4905G>A	NP_000486.1:p.Arg1635=
NM_033380.2:c.4923G>A	NP_203699.1:p.Arg1641=
XM_005262070.2:c.4914G>A	XP_005262127.1:p.Arg1638=
XM_006724616.2:c.4923G>A	XP_006724679.1:p.Arg1641=
XM_011530849.1:c.4599G>A	XP_011529151.1:p.Arg1533=
XM_011530851.1:c.2496G>A	XP_011529153.1:p.Arg832=
XM_011530849.2:c.4938G>A	XP_011529151.2:p.Arg1646=
XM_017029259.2:c.4929G>A	XP_016884748.1:p.Arg1643=
XM_017029260.1:c.4920G>A	XP_016884749.1:p.Arg1640=
XM_017029263.2:c.3258G>A	XP_016884752.1:p.Arg1086=
NM_000495.5:c.4905G>A	NP_000486.1:p.Arg1635=
NM_033380.3:c.4923G>A MANE Select	NP_203699.1:p.Arg1641=