Canonical Allele Identifier: CA517991355

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107802320A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108559090A>G , CM000685.2:g.108559090A>G	GRCh38
NC_000023.10:g.107802320A>G , CM000685.1:g.107802320A>G	GRCh37
NC_000023.9:g.107688976A>G	NCBI36
NG_011977.1:g.124167A>G
NG_011977.2:g.124167A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.168A>G MANE Select	ENSP00000331902.7:p.Glu56=
ENST00000361603.7:c.168A>G	ENSP00000354505.2:p.Glu56=
ENST00000328300.10:c.168A>G	ENSP00000331902.6:p.Glu56=
ENST00000361603.6:c.168A>G	ENSP00000354505.2:p.Glu56=
ENST00000470339.1:n.352A>G
NM_000495.4:c.168A>G	NP_000486.1:p.Glu56=
NM_033380.2:c.168A>G	NP_203699.1:p.Glu56=
XM_005262070.2:c.168A>G	XP_005262127.1:p.Glu56=
XM_005262072.3:c.168A>G	XP_005262129.1:p.Glu56=
XM_006724616.2:c.168A>G	XP_006724679.1:p.Glu56=
XM_011530849.1:c.-157A>G	XP_011529151.1:n.-157A>G
XM_011530850.1:c.168A>G	XP_011529152.1:p.Glu56=
XM_011530849.2:c.183A>G	XP_011529151.2:p.Glu61=
XM_017029259.2:c.183A>G	XP_016884748.1:p.Glu61=
XM_017029260.1:c.183A>G	XP_016884749.1:p.Glu61=
XM_017029261.1:c.183A>G	XP_016884750.1:p.Glu61=
XM_017029262.2:c.183A>G	XP_016884751.1:p.Glu61=
NM_000495.5:c.168A>G	NP_000486.1:p.Glu56=
NM_033380.3:c.168A>G MANE Select	NP_203699.1:p.Glu56=