Canonical Allele Identifier: CA10489233

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677529C>T , CM000685.2:g.108677529C>T	GRCh38
NC_000023.10:g.107920759C>T , CM000685.1:g.107920759C>T	GRCh37
NC_000023.9:g.107807415C>T	NCBI36
NG_011977.1:g.242606C>T
NG_011977.2:g.242606C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033380.3:c.3838C>T MANE Select	NP_203699.1:p.Leu1280Phe
ENST00000328300.11:c.3838C>T MANE Select	ENSP00000331902.7:p.Leu1280Phe
NM_000495.4:c.3820C>T	NP_000486.1:p.Leu1274Phe
NM_000495.5:c.3820C>T	NP_000486.1:p.Leu1274Phe
NM_033380.2:c.3838C>T	NP_203699.1:p.Leu1280Phe
ENST00000328300.10:c.3838C>T	ENSP00000331902.6:p.Leu1280Phe
ENST00000361603.6:c.3820C>T	ENSP00000354505.2:p.Leu1274Phe
ENST00000361603.7:c.3820C>T	ENSP00000354505.2:p.Leu1274Phe
ENST00000489230.1:n.241C>T
ENST00000510690.1:n.332C>T
ENST00000510690.2:n.332C>T
XM_005262070.2:c.3829C>T	XP_005262127.1:p.Leu1277Phe
XM_006724616.2:c.3838C>T	XP_006724679.1:p.Leu1280Phe
XM_011530849.1:c.3514C>T	XP_011529151.1:p.Leu1172Phe
XM_011530849.2:c.3853C>T	XP_011529151.2:p.Leu1285Phe
XM_011530851.1:c.1411C>T	XP_011529153.1:p.Leu471Phe
XM_017029259.2:c.3844C>T	XP_016884748.1:p.Leu1282Phe
XM_017029260.1:c.3835C>T	XP_016884749.1:p.Leu1279Phe
XM_017029261.1:c.3853C>T	XP_016884750.1:p.Leu1285Phe
XM_017029263.2:c.2173C>T	XP_016884752.1:p.Leu725Phe