Canonical Allele Identifier: CA517924048

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107929277A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686047A>G , CM000685.2:g.108686047A>G	GRCh38
NC_000023.10:g.107929277A>G , CM000685.1:g.107929277A>G	GRCh37
NC_000023.9:g.107815933A>G	NCBI36
NG_011977.1:g.251124A>G
NG_011977.2:g.251124A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4233A>G MANE Select	ENSP00000331902.7:p.Pro1411=
ENST00000361603.7:c.4215A>G	ENSP00000354505.2:p.Pro1405=
ENST00000510690.2:n.727A>G
ENST00000328300.10:c.4233A>G	ENSP00000331902.6:p.Pro1411=
ENST00000361603.6:c.4215A>G	ENSP00000354505.2:p.Pro1405=
ENST00000489230.1:n.636A>G
ENST00000515658.1:c.29A>G
NM_000495.4:c.4215A>G	NP_000486.1:p.Pro1405=
NM_033380.2:c.4233A>G	NP_203699.1:p.Pro1411=
XM_005262070.2:c.4224A>G	XP_005262127.1:p.Pro1408=
XM_006724616.2:c.4233A>G	XP_006724679.1:p.Pro1411=
XM_011530849.1:c.3909A>G	XP_011529151.1:p.Pro1303=
XM_011530851.1:c.1806A>G	XP_011529153.1:p.Pro602=
XM_011530849.2:c.4248A>G	XP_011529151.2:p.Pro1416=
XM_017029259.2:c.4239A>G	XP_016884748.1:p.Pro1413=
XM_017029260.1:c.4230A>G	XP_016884749.1:p.Pro1410=
XM_017029263.2:c.2568A>G	XP_016884752.1:p.Pro856=
NM_000495.5:c.4215A>G	NP_000486.1:p.Pro1405=
NM_033380.3:c.4233A>G MANE Select	NP_203699.1:p.Pro1411=