Canonical Allele Identifier: CA10489295

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681789C>A , CM000685.2:g.108681789C>A	GRCh38
NC_000023.10:g.107925019C>A , CM000685.1:g.107925019C>A	GRCh37
NC_000023.9:g.107811675C>A	NCBI36
NG_011977.1:g.246866C>A
NG_011977.2:g.246866C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033380.3:c.4117C>A MANE Select	NP_203699.1:p.Gln1373Lys
ENST00000328300.11:c.4117C>A MANE Select	ENSP00000331902.7:p.Gln1373Lys
NM_000495.4:c.4099C>A	NP_000486.1:p.Gln1367Lys
NM_000495.5:c.4099C>A	NP_000486.1:p.Gln1367Lys
NM_033380.2:c.4117C>A	NP_203699.1:p.Gln1373Lys
ENST00000328300.10:c.4117C>A	ENSP00000331902.6:p.Gln1373Lys
ENST00000361603.6:c.4099C>A	ENSP00000354505.2:p.Gln1367Lys
ENST00000361603.7:c.4099C>A	ENSP00000354505.2:p.Gln1367Lys
ENST00000489230.1:n.520C>A
ENST00000510690.2:n.611C>A
XM_005262070.2:c.4108C>A	XP_005262127.1:p.Gln1370Lys
XM_006724616.2:c.4117C>A	XP_006724679.1:p.Gln1373Lys
XM_011530849.1:c.3793C>A	XP_011529151.1:p.Gln1265Lys
XM_011530849.2:c.4132C>A	XP_011529151.2:p.Gln1378Lys
XM_011530851.1:c.1690C>A	XP_011529153.1:p.Gln564Lys
XM_017029259.2:c.4123C>A	XP_016884748.1:p.Gln1375Lys
XM_017029260.1:c.4114C>A	XP_016884749.1:p.Gln1372Lys
XM_017029263.2:c.2452C>A	XP_016884752.1:p.Gln818Lys