Canonical Allele Identifier: CA517924688

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930908C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687678C>A , CM000685.2:g.108687678C>A	GRCh38
NC_000023.10:g.107930908C>A , CM000685.1:g.107930908C>A	GRCh37
NC_000023.9:g.107817564C>A	NCBI36
NG_011977.1:g.252755C>A
NG_011977.2:g.252755C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4512C>A MANE Select	ENSP00000331902.7:p.Ala1504=
ENST00000361603.7:c.4494C>A	ENSP00000354505.2:p.Ala1498=
ENST00000510690.2:n.1006C>A
ENST00000328300.10:c.4512C>A	ENSP00000331902.6:p.Ala1504=
ENST00000361603.6:c.4494C>A	ENSP00000354505.2:p.Ala1498=
ENST00000515658.1:c.308C>A
NM_000495.4:c.4494C>A	NP_000486.1:p.Ala1498=
NM_033380.2:c.4512C>A	NP_203699.1:p.Ala1504=
XM_005262070.2:c.4503C>A	XP_005262127.1:p.Ala1501=
XM_006724616.2:c.4512C>A	XP_006724679.1:p.Ala1504=
XM_011530849.1:c.4188C>A	XP_011529151.1:p.Ala1396=
XM_011530851.1:c.2085C>A	XP_011529153.1:p.Ala695=
XM_011530849.2:c.4527C>A	XP_011529151.2:p.Ala1509=
XM_017029259.2:c.4518C>A	XP_016884748.1:p.Ala1506=
XM_017029260.1:c.4509C>A	XP_016884749.1:p.Ala1503=
XM_017029263.2:c.2847C>A	XP_016884752.1:p.Ala949=
NM_000495.5:c.4494C>A	NP_000486.1:p.Ala1498=
NM_033380.3:c.4512C>A MANE Select	NP_203699.1:p.Ala1504=