Canonical Allele Identifier: CA2450717242

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681850A= , CM000685.2:g.108681850A=	GRCh38
NC_000023.10:g.107925080A= , CM000685.1:g.107925080A=	GRCh37
NC_000023.9:g.107811736A=	NCBI36
NG_011977.1:g.246927A=
NG_011977.2:g.246927A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4178A= MANE Select	ENSP00000331902.7:p.Lys1393=
ENST00000361603.7:c.4160A=	ENSP00000354505.2:p.Lys1387=
ENST00000510690.2:n.672A=
ENST00000328300.10:c.4178A=	ENSP00000331902.6:p.Lys1393=
ENST00000361603.6:c.4160A=	ENSP00000354505.2:p.Lys1387=
ENST00000489230.1:n.581A=
NM_000495.4:c.4160A=	NP_000486.1:p.Lys1387=
NM_033380.2:c.4178A=	NP_203699.1:p.Lys1393=
XM_005262070.2:c.4169A=	XP_005262127.1:p.Lys1390=
XM_006724616.2:c.4178A=	XP_006724679.1:p.Lys1393=
XM_011530849.1:c.3854A=	XP_011529151.1:p.Lys1285=
XM_011530851.1:c.1751A=	XP_011529153.1:p.Lys584=
XM_011530849.2:c.4193A=	XP_011529151.2:p.Lys1398=
XM_017029259.2:c.4184A=	XP_016884748.1:p.Lys1395=
XM_017029260.1:c.4175A=	XP_016884749.1:p.Lys1392=
XM_017029263.2:c.2513A=	XP_016884752.1:p.Lys838=
NM_000495.5:c.4160A=	NP_000486.1:p.Lys1387=
NM_033380.3:c.4178A= MANE Select	NP_203699.1:p.Lys1393=