Canonical Allele Identifier: CA2450719235

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687520T= , CM000685.2:g.108687520T=	GRCh38
NC_000023.10:g.107930750T= , CM000685.1:g.107930750T=	GRCh37
NC_000023.9:g.107817406T=	NCBI36
NG_011977.1:g.252597T=
NG_011977.2:g.252597T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4354T= MANE Select	ENSP00000331902.7:p.Leu1452=
ENST00000361603.7:c.4336T=	ENSP00000354505.2:p.Leu1446=
ENST00000510690.2:n.848T=
ENST00000328300.10:c.4354T=	ENSP00000331902.6:p.Leu1452=
ENST00000361603.6:c.4336T=	ENSP00000354505.2:p.Leu1446=
ENST00000515658.1:c.150T=
NM_000495.4:c.4336T=	NP_000486.1:p.Leu1446=
NM_033380.2:c.4354T=	NP_203699.1:p.Leu1452=
XM_005262070.2:c.4345T=	XP_005262127.1:p.Leu1449=
XM_006724616.2:c.4354T=	XP_006724679.1:p.Leu1452=
XM_011530849.1:c.4030T=	XP_011529151.1:p.Leu1344=
XM_011530851.1:c.1927T=	XP_011529153.1:p.Leu643=
XM_011530849.2:c.4369T=	XP_011529151.2:p.Leu1457=
XM_017029259.2:c.4360T=	XP_016884748.1:p.Leu1454=
XM_017029260.1:c.4351T=	XP_016884749.1:p.Leu1451=
XM_017029263.2:c.2689T=	XP_016884752.1:p.Leu897=
NM_000495.5:c.4336T=	NP_000486.1:p.Leu1446=
NM_033380.3:c.4354T= MANE Select	NP_203699.1:p.Leu1452=