Canonical Allele Identifier: CA10489236
Community Standard Title: NM_033380.3(COL4A5):c.3853G>A (p.Gly1285Ser)
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108677544G>A , CM000685.2:g.108677544G>A GRCh38
NC_000023.10:g.107920774G>A , CM000685.1:g.107920774G>A GRCh37
NC_000023.9:g.107807430G>A NCBI36
NG_011977.1:g.242621G>A
NG_011977.2:g.242621G>A

Transcript Alleles

HGVS Amino-acid Change
NM_033380.3:c.3853G>A MANE Select NP_203699.1:p.Gly1285Ser
ENST00000328300.11:c.3853G>A MANE Select ENSP00000331902.7:p.Gly1285Ser
NM_000495.4:c.3835G>A NP_000486.1:p.Gly1279Ser
NM_000495.5:c.3835G>A NP_000486.1:p.Gly1279Ser
NM_033380.2:c.3853G>A NP_203699.1:p.Gly1285Ser
ENST00000328300.10:c.3853G>A ENSP00000331902.6:p.Gly1285Ser
ENST00000361603.6:c.3835G>A ENSP00000354505.2:p.Gly1279Ser
ENST00000361603.7:c.3835G>A ENSP00000354505.2:p.Gly1279Ser
ENST00000489230.1:n.256G>A
ENST00000510690.1:n.347G>A
ENST00000510690.2:n.347G>A
XM_005262070.2:c.3844G>A XP_005262127.1:p.Gly1282Ser
XM_006724616.2:c.3853G>A XP_006724679.1:p.Gly1285Ser
XM_011530849.1:c.3529G>A XP_011529151.1:p.Gly1177Ser
XM_011530849.2:c.3868G>A XP_011529151.2:p.Gly1290Ser
XM_011530851.1:c.1426G>A XP_011529153.1:p.Gly476Ser
XM_017029259.2:c.3859G>A XP_016884748.1:p.Gly1287Ser
XM_017029260.1:c.3850G>A XP_016884749.1:p.Gly1284Ser
XM_017029261.1:c.3868G>A XP_016884750.1:p.Gly1290Ser
XM_017029263.2:c.2188G>A XP_016884752.1:p.Gly730Ser