Canonical Allele Identifier: CA2450716914

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680941C= , CM000685.2:g.108680941C=	GRCh38
NC_000023.10:g.107924171C= , CM000685.1:g.107924171C=	GRCh37
NC_000023.9:g.107810827C=	NCBI36
NG_011977.1:g.246018C=
NG_011977.2:g.246018C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4072C= MANE Select	ENSP00000331902.7:p.Leu1358=
ENST00000361603.7:c.4054C=	ENSP00000354505.2:p.Leu1352=
ENST00000510690.2:n.566C=
ENST00000328300.10:c.4072C=	ENSP00000331902.6:p.Leu1358=
ENST00000361603.6:c.4054C=	ENSP00000354505.2:p.Leu1352=
ENST00000489230.1:n.475C=
NM_000495.4:c.4054C=	NP_000486.1:p.Leu1352=
NM_033380.2:c.4072C=	NP_203699.1:p.Leu1358=
XM_005262070.2:c.4063C=	XP_005262127.1:p.Leu1355=
XM_006724616.2:c.4072C=	XP_006724679.1:p.Leu1358=
XM_011530849.1:c.3748C=	XP_011529151.1:p.Leu1250=
XM_011530851.1:c.1645C=	XP_011529153.1:p.Leu549=
XM_011530849.2:c.4087C=	XP_011529151.2:p.Leu1363=
XM_017029259.2:c.4078C=	XP_016884748.1:p.Leu1360=
XM_017029260.1:c.4069C=	XP_016884749.1:p.Leu1357=
XM_017029263.2:c.2407C=	XP_016884752.1:p.Leu803=
NM_000495.5:c.4054C=	NP_000486.1:p.Leu1352=
NM_033380.3:c.4072C= MANE Select	NP_203699.1:p.Leu1358=