Canonical Allele Identifier: CA2450721745

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695332G= , CM000685.2:g.108695332G=	GRCh38
NC_000023.10:g.107938562G= , CM000685.1:g.107938562G=	GRCh37
NC_000023.9:g.107825218G=	NCBI36
NG_011977.1:g.260409G=
NG_011977.2:g.260409G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4887G= MANE Select	ENSP00000331902.7:p.Glu1629=
ENST00000361603.7:c.4869G=	ENSP00000354505.2:p.Glu1623=
ENST00000510690.2:n.1381G=
ENST00000644079.1:n.1718G=
ENST00000328300.10:c.4887G=	ENSP00000331902.6:p.Glu1629=
ENST00000361603.6:c.4869G=	ENSP00000354505.2:p.Glu1623=
ENST00000504541.1:c.219+411G=	ENSP00000424845.1:n.219+411G=
ENST00000515658.1:c.325-965G=
NM_000495.4:c.4869G=	NP_000486.1:p.Glu1623=
NM_033380.2:c.4887G=	NP_203699.1:p.Glu1629=
XM_005262070.2:c.4878G=	XP_005262127.1:p.Glu1626=
XM_006724616.2:c.4887G=	XP_006724679.1:p.Glu1629=
XM_011530849.1:c.4563G=	XP_011529151.1:p.Glu1521=
XM_011530851.1:c.2460G=	XP_011529153.1:p.Glu820=
XM_011530849.2:c.4902G=	XP_011529151.2:p.Glu1634=
XM_017029259.2:c.4893G=	XP_016884748.1:p.Glu1631=
XM_017029260.1:c.4884G=	XP_016884749.1:p.Glu1628=
XM_017029263.2:c.3222G=	XP_016884752.1:p.Glu1074=
NM_000495.5:c.4869G=	NP_000486.1:p.Glu1623=
NM_033380.3:c.4887G= MANE Select	NP_203699.1:p.Glu1629=