Canonical Allele Identifier: CA10489239

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677614A>G , CM000685.2:g.108677614A>G	GRCh38
NC_000023.10:g.107920844A>G , CM000685.1:g.107920844A>G	GRCh37
NC_000023.9:g.107807500A>G	NCBI36
NG_011977.1:g.242691A>G
NG_011977.2:g.242691A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_033380.3:c.3923A>G MANE Select	NP_203699.1:p.Gln1308Arg
ENST00000328300.11:c.3923A>G MANE Select	ENSP00000331902.7:p.Gln1308Arg
NM_000495.4:c.3905A>G	NP_000486.1:p.Gln1302Arg
NM_000495.5:c.3905A>G	NP_000486.1:p.Gln1302Arg
NM_033380.2:c.3923A>G	NP_203699.1:p.Gln1308Arg
ENST00000328300.10:c.3923A>G	ENSP00000331902.6:p.Gln1308Arg
ENST00000361603.6:c.3905A>G	ENSP00000354505.2:p.Gln1302Arg
ENST00000361603.7:c.3905A>G	ENSP00000354505.2:p.Gln1302Arg
ENST00000489230.1:n.326A>G
ENST00000510690.2:n.417A>G
XM_005262070.2:c.3914A>G	XP_005262127.1:p.Gln1305Arg
XM_006724616.2:c.3923A>G	XP_006724679.1:p.Gln1308Arg
XM_011530849.1:c.3599A>G	XP_011529151.1:p.Gln1200Arg
XM_011530849.2:c.3938A>G	XP_011529151.2:p.Gln1313Arg
XM_011530851.1:c.1496A>G	XP_011529153.1:p.Gln499Arg
XM_017029259.2:c.3929A>G	XP_016884748.1:p.Gln1310Arg
XM_017029260.1:c.3920A>G	XP_016884749.1:p.Gln1307Arg
XM_017029261.1:c.3938A>G	XP_016884750.1:p.Gln1313Arg
XM_017029263.2:c.2258A>G	XP_016884752.1:p.Gln753Arg