Canonical Allele Identifier: CA2450722061

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696299A= , CM000685.2:g.108696299A=	GRCh38
NC_000023.10:g.107939529A= , CM000685.1:g.107939529A=	GRCh37
NC_000023.9:g.107826185A=	NCBI36
NG_011977.1:g.261376A=
NG_011977.2:g.261376A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4997A= MANE Select	ENSP00000331902.7:p.Lys1666=
ENST00000361603.7:c.4979A=	ENSP00000354505.2:p.Lys1660=
ENST00000510690.2:n.1491A=
ENST00000644079.1:n.2685A=
ENST00000328300.10:c.4997A=	ENSP00000331902.6:p.Lys1666=
ENST00000361603.6:c.4979A=	ENSP00000354505.2:p.Lys1660=
ENST00000504541.1:c.222A=	ENSP00000424845.1:p.Ter74=
ENST00000515658.1:c.327A=
NM_000495.4:c.4979A=	NP_000486.1:p.Lys1660=
NM_033380.2:c.4997A=	NP_203699.1:p.Lys1666=
XM_005262070.2:c.4988A=	XP_005262127.1:p.Lys1663=
XM_006724616.2:c.4997A=	XP_006724679.1:p.Lys1666=
XM_011530849.1:c.4673A=	XP_011529151.1:p.Lys1558=
XM_011530851.1:c.2570A=	XP_011529153.1:p.Lys857=
XM_011530849.2:c.5012A=	XP_011529151.2:p.Lys1671=
XM_017029259.2:c.5003A=	XP_016884748.1:p.Lys1668=
XM_017029260.1:c.4994A=	XP_016884749.1:p.Lys1665=
XM_017029263.2:c.3332A=	XP_016884752.1:p.Lys1111=
NM_000495.5:c.4979A=	NP_000486.1:p.Lys1660=
NM_033380.3:c.4997A= MANE Select	NP_203699.1:p.Lys1666=