Canonical Allele Identifier: CA2450721751

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695343C= , CM000685.2:g.108695343C=	GRCh38
NC_000023.10:g.107938573C= , CM000685.1:g.107938573C=	GRCh37
NC_000023.9:g.107825229C=	NCBI36
NG_011977.1:g.260420C=
NG_011977.2:g.260420C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4898C= MANE Select	ENSP00000331902.7:p.Ala1633=
ENST00000361603.7:c.4880C=	ENSP00000354505.2:p.Ala1627=
ENST00000510690.2:n.1392C=
ENST00000644079.1:n.1729C=
ENST00000328300.10:c.4898C=	ENSP00000331902.6:p.Ala1633=
ENST00000361603.6:c.4880C=	ENSP00000354505.2:p.Ala1627=
ENST00000504541.1:c.219+422C=	ENSP00000424845.1:n.219+422C=
ENST00000515658.1:c.325-954C=
NM_000495.4:c.4880C=	NP_000486.1:p.Ala1627=
NM_033380.2:c.4898C=	NP_203699.1:p.Ala1633=
XM_005262070.2:c.4889C=	XP_005262127.1:p.Ala1630=
XM_006724616.2:c.4898C=	XP_006724679.1:p.Ala1633=
XM_011530849.1:c.4574C=	XP_011529151.1:p.Ala1525=
XM_011530851.1:c.2471C=	XP_011529153.1:p.Ala824=
XM_011530849.2:c.4913C=	XP_011529151.2:p.Ala1638=
XM_017029259.2:c.4904C=	XP_016884748.1:p.Ala1635=
XM_017029260.1:c.4895C=	XP_016884749.1:p.Ala1632=
XM_017029263.2:c.3233C=	XP_016884752.1:p.Ala1078=
NM_000495.5:c.4880C=	NP_000486.1:p.Ala1627=
NM_033380.3:c.4898C= MANE Select	NP_203699.1:p.Ala1633=