Canonical Allele Identifier: CA413854829

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687694G>A , CM000685.2:g.108687694G>A	GRCh38
NC_000023.10:g.107930924G>A , CM000685.1:g.107930924G>A	GRCh37
NC_000023.9:g.107817580G>A	NCBI36
NG_011977.1:g.252771G>A
NG_011977.2:g.252771G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033380.3:c.4528G>A MANE Select	NP_203699.1:p.Gly1510Arg
ENST00000328300.11:c.4528G>A MANE Select	ENSP00000331902.7:p.Gly1510Arg
NM_000495.4:c.4510G>A	NP_000486.1:p.Gly1504Arg
NM_000495.5:c.4510G>A	NP_000486.1:p.Gly1504Arg
NM_033380.2:c.4528G>A	NP_203699.1:p.Gly1510Arg
ENST00000328300.10:c.4528G>A	ENSP00000331902.6:p.Gly1510Arg
ENST00000361603.6:c.4510G>A	ENSP00000354505.2:p.Gly1504Arg
ENST00000361603.7:c.4510G>A	ENSP00000354505.2:p.Gly1504Arg
ENST00000510690.2:n.1022G>A
ENST00000515658.1:c.324G>A
XM_005262070.2:c.4519G>A	XP_005262127.1:p.Gly1507Arg
XM_006724616.2:c.4528G>A	XP_006724679.1:p.Gly1510Arg
XM_011530849.1:c.4204G>A	XP_011529151.1:p.Gly1402Arg
XM_011530849.2:c.4543G>A	XP_011529151.2:p.Gly1515Arg
XM_011530851.1:c.2101G>A	XP_011529153.1:p.Gly701Arg
XM_017029259.2:c.4534G>A	XP_016884748.1:p.Gly1512Arg
XM_017029260.1:c.4525G>A	XP_016884749.1:p.Gly1509Arg
XM_017029263.2:c.2863G>A	XP_016884752.1:p.Gly955Arg