Canonical Allele Identifier: CA413850265

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677535G>A , CM000685.2:g.108677535G>A	GRCh38
NC_000023.10:g.107920765G>A , CM000685.1:g.107920765G>A	GRCh37
NC_000023.9:g.107807421G>A	NCBI36
NG_011977.1:g.242612G>A
NG_011977.2:g.242612G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033380.3:c.3844G>A MANE Select	NP_203699.1:p.Gly1282Arg
ENST00000328300.11:c.3844G>A MANE Select	ENSP00000331902.7:p.Gly1282Arg
NM_000495.4:c.3826G>A	NP_000486.1:p.Gly1276Arg
NM_000495.5:c.3826G>A	NP_000486.1:p.Gly1276Arg
NM_033380.2:c.3844G>A	NP_203699.1:p.Gly1282Arg
ENST00000328300.10:c.3844G>A	ENSP00000331902.6:p.Gly1282Arg
ENST00000361603.6:c.3826G>A	ENSP00000354505.2:p.Gly1276Arg
ENST00000361603.7:c.3826G>A	ENSP00000354505.2:p.Gly1276Arg
ENST00000489230.1:n.247G>A
ENST00000510690.1:n.338G>A
ENST00000510690.2:n.338G>A
XM_005262070.2:c.3835G>A	XP_005262127.1:p.Gly1279Arg
XM_006724616.2:c.3844G>A	XP_006724679.1:p.Gly1282Arg
XM_011530849.1:c.3520G>A	XP_011529151.1:p.Gly1174Arg
XM_011530849.2:c.3859G>A	XP_011529151.2:p.Gly1287Arg
XM_011530851.1:c.1417G>A	XP_011529153.1:p.Gly473Arg
XM_017029259.2:c.3850G>A	XP_016884748.1:p.Gly1284Arg
XM_017029260.1:c.3841G>A	XP_016884749.1:p.Gly1281Arg
XM_017029261.1:c.3859G>A	XP_016884750.1:p.Gly1287Arg
XM_017029263.2:c.2179G>A	XP_016884752.1:p.Gly727Arg