Canonical Allele Identifier: CA2450721647

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695041T= , CM000685.2:g.108695041T=	GRCh38
NC_000023.10:g.107938271T= , CM000685.1:g.107938271T=	GRCh37
NC_000023.9:g.107824927T=	NCBI36
NG_011977.1:g.260118T=
NG_011977.2:g.260118T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4821+120T= MANE Select	ENSP00000331902.7:n.4821+120T=
ENST00000361603.7:c.4803+120T=	ENSP00000354505.2:n.4803+120T=
ENST00000510690.2:n.1315+120T=
ENST00000644079.1:n.1427T=
ENST00000328300.10:c.4821+120T=	ENSP00000331902.6:n.4821+120T=
ENST00000361603.6:c.4803+120T=	ENSP00000354505.2:n.4803+120T=
ENST00000504541.1:c.219+120T=	ENSP00000424845.1:n.219+120T=
ENST00000515658.1:c.325-1256T=
NM_000495.4:c.4803+120T=	NP_000486.1:n.4803+120T=
NM_033380.2:c.4821+120T=	NP_203699.1:n.4821+120T=
XM_005262070.2:c.4812+120T=	XP_005262127.1:n.4812+120T=
XM_006724616.2:c.4821+120T=	XP_006724679.1:n.4821+120T=
XM_011530849.1:c.4497+120T=	XP_011529151.1:n.4497+120T=
XM_011530851.1:c.2394+120T=	XP_011529153.1:n.2394+120T=
XM_011530849.2:c.4836+120T=	XP_011529151.2:n.4836+120T=
XM_017029259.2:c.4827+120T=	XP_016884748.1:n.4827+120T=
XM_017029260.1:c.4818+120T=	XP_016884749.1:n.4818+120T=
XM_017029263.2:c.3156+120T=	XP_016884752.1:n.3156+120T=
NM_000495.5:c.4803+120T=	NP_000486.1:n.4803+120T=
NM_033380.3:c.4821+120T= MANE Select	NP_203699.1:n.4821+120T=