Canonical Allele Identifier: CA517923666

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107924158G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680928G>A , CM000685.2:g.108680928G>A	GRCh38
NC_000023.10:g.107924158G>A , CM000685.1:g.107924158G>A	GRCh37
NC_000023.9:g.107810814G>A	NCBI36
NG_011977.1:g.246005G>A
NG_011977.2:g.246005G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4059G>A MANE Select	ENSP00000331902.7:p.Glu1353=
ENST00000361603.7:c.4041G>A	ENSP00000354505.2:p.Glu1347=
ENST00000510690.2:n.553G>A
ENST00000328300.10:c.4059G>A	ENSP00000331902.6:p.Glu1353=
ENST00000361603.6:c.4041G>A	ENSP00000354505.2:p.Glu1347=
ENST00000489230.1:n.462G>A
NM_000495.4:c.4041G>A	NP_000486.1:p.Glu1347=
NM_033380.2:c.4059G>A	NP_203699.1:p.Glu1353=
XM_005262070.2:c.4050G>A	XP_005262127.1:p.Glu1350=
XM_006724616.2:c.4059G>A	XP_006724679.1:p.Glu1353=
XM_011530849.1:c.3735G>A	XP_011529151.1:p.Glu1245=
XM_011530851.1:c.1632G>A	XP_011529153.1:p.Glu544=
XM_011530849.2:c.4074G>A	XP_011529151.2:p.Glu1358=
XM_017029259.2:c.4065G>A	XP_016884748.1:p.Glu1355=
XM_017029260.1:c.4056G>A	XP_016884749.1:p.Glu1352=
XM_017029263.2:c.2394G>A	XP_016884752.1:p.Glu798=
NM_000495.5:c.4041G>A	NP_000486.1:p.Glu1347=
NM_033380.3:c.4059G>A MANE Select	NP_203699.1:p.Glu1353=