Canonical Allele Identifier: CA2450721755

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695357T= , CM000685.2:g.108695357T=	GRCh38
NC_000023.10:g.107938587T= , CM000685.1:g.107938587T=	GRCh37
NC_000023.9:g.107825243T=	NCBI36
NG_011977.1:g.260434T=
NG_011977.2:g.260434T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4912T= MANE Select	ENSP00000331902.7:p.Cys1638=
ENST00000361603.7:c.4894T=	ENSP00000354505.2:p.Cys1632=
ENST00000510690.2:n.1406T=
ENST00000644079.1:n.1743T=
ENST00000328300.10:c.4912T=	ENSP00000331902.6:p.Cys1638=
ENST00000361603.6:c.4894T=	ENSP00000354505.2:p.Cys1632=
ENST00000504541.1:c.219+436T=	ENSP00000424845.1:n.219+436T=
ENST00000515658.1:c.325-940T=
NM_000495.4:c.4894T=	NP_000486.1:p.Cys1632=
NM_033380.2:c.4912T=	NP_203699.1:p.Cys1638=
XM_005262070.2:c.4903T=	XP_005262127.1:p.Cys1635=
XM_006724616.2:c.4912T=	XP_006724679.1:p.Cys1638=
XM_011530849.1:c.4588T=	XP_011529151.1:p.Cys1530=
XM_011530851.1:c.2485T=	XP_011529153.1:p.Cys829=
XM_011530849.2:c.4927T=	XP_011529151.2:p.Cys1643=
XM_017029259.2:c.4918T=	XP_016884748.1:p.Cys1640=
XM_017029260.1:c.4909T=	XP_016884749.1:p.Cys1637=
XM_017029263.2:c.3247T=	XP_016884752.1:p.Cys1083=
NM_000495.5:c.4894T=	NP_000486.1:p.Cys1632=
NM_033380.3:c.4912T= MANE Select	NP_203699.1:p.Cys1638=