Canonical Allele Identifier: CA2450697355

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108624319T= , CM000685.2:g.108624319T=	GRCh38
NC_000023.10:g.107867549T= , CM000685.1:g.107867549T=	GRCh37
NC_000023.9:g.107754205T=	NCBI36
NG_011977.1:g.189396T=
NG_011977.2:g.189396T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3001T= MANE Select	ENSP00000331902.7:p.Leu1001=
ENST00000361603.7:c.3001T=	ENSP00000354505.2:p.Leu1001=
ENST00000328300.10:c.3001T=	ENSP00000331902.6:p.Leu1001=
ENST00000361603.6:c.3001T=	ENSP00000354505.2:p.Leu1001=
ENST00000483338.1:n.2457T=
ENST00000505728.1:c.234T=
NM_000495.4:c.3001T=	NP_000486.1:p.Leu1001=
NM_033380.2:c.3001T=	NP_203699.1:p.Leu1001=
XM_005262070.2:c.3001T=	XP_005262127.1:p.Leu1001=
XM_005262072.3:c.3001T=	XP_005262129.1:p.Leu1001=
XM_006724616.2:c.3001T=	XP_006724679.1:p.Leu1001=
XM_011530849.1:c.2677T=	XP_011529151.1:p.Leu893=
XM_011530850.1:c.3001T=	XP_011529152.1:p.Leu1001=
XM_011530851.1:c.574T=	XP_011529153.1:p.Leu192=
XM_011530849.2:c.3016T=	XP_011529151.2:p.Leu1006=
XM_017029259.2:c.3016T=	XP_016884748.1:p.Leu1006=
XM_017029260.1:c.3016T=	XP_016884749.1:p.Leu1006=
XM_017029261.1:c.3016T=	XP_016884750.1:p.Leu1006=
XM_017029262.2:c.3016T=	XP_016884751.1:p.Leu1006=
XM_017029263.2:c.1336T=	XP_016884752.1:p.Leu446=
NM_000495.5:c.3001T=	NP_000486.1:p.Leu1001=
NM_033380.3:c.3001T= MANE Select	NP_203699.1:p.Leu1001=