Canonical Allele Identifier: CA413851174

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107924156G>A (hg19) ; chrX:g.108680926G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680926G>A , CM000685.2:g.108680926G>A	GRCh38
NC_000023.10:g.107924156G>A , CM000685.1:g.107924156G>A	GRCh37
NC_000023.9:g.107810812G>A	NCBI36
NG_011977.1:g.246003G>A
NG_011977.2:g.246003G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4057G>A MANE Select	ENSP00000331902.7:p.Glu1353Lys
ENST00000361603.7:c.4039G>A	ENSP00000354505.2:p.Glu1347Lys
ENST00000510690.2:n.551G>A
ENST00000328300.10:c.4057G>A	ENSP00000331902.6:p.Glu1353Lys
ENST00000361603.6:c.4039G>A	ENSP00000354505.2:p.Glu1347Lys
ENST00000489230.1:n.460G>A
NM_000495.4:c.4039G>A	NP_000486.1:p.Glu1347Lys
NM_033380.2:c.4057G>A	NP_203699.1:p.Glu1353Lys
XM_005262070.2:c.4048G>A	XP_005262127.1:p.Glu1350Lys
XM_006724616.2:c.4057G>A	XP_006724679.1:p.Glu1353Lys
XM_011530849.1:c.3733G>A	XP_011529151.1:p.Glu1245Lys
XM_011530851.1:c.1630G>A	XP_011529153.1:p.Glu544Lys
XM_011530849.2:c.4072G>A	XP_011529151.2:p.Glu1358Lys
XM_017029259.2:c.4063G>A	XP_016884748.1:p.Glu1355Lys
XM_017029260.1:c.4054G>A	XP_016884749.1:p.Glu1352Lys
XM_017029263.2:c.2392G>A	XP_016884752.1:p.Glu798Lys
NM_000495.5:c.4039G>A	NP_000486.1:p.Glu1347Lys
NM_033380.3:c.4057G>A MANE Select	NP_203699.1:p.Glu1353Lys