Canonical Allele Identifier: CA2450721730

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695291T= , CM000685.2:g.108695291T=	GRCh38
NC_000023.10:g.107938521T= , CM000685.1:g.107938521T=	GRCh37
NC_000023.9:g.107825177T=	NCBI36
NG_011977.1:g.260368T=
NG_011977.2:g.260368T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4846T= MANE Select	ENSP00000331902.7:p.Ser1616=
ENST00000361603.7:c.4828T=	ENSP00000354505.2:p.Ser1610=
ENST00000510690.2:n.1340T=
ENST00000644079.1:n.1677T=
ENST00000328300.10:c.4846T=	ENSP00000331902.6:p.Ser1616=
ENST00000361603.6:c.4828T=	ENSP00000354505.2:p.Ser1610=
ENST00000504541.1:c.219+370T=	ENSP00000424845.1:n.219+370T=
ENST00000515658.1:c.325-1006T=
NM_000495.4:c.4828T=	NP_000486.1:p.Ser1610=
NM_033380.2:c.4846T=	NP_203699.1:p.Ser1616=
XM_005262070.2:c.4837T=	XP_005262127.1:p.Ser1613=
XM_006724616.2:c.4846T=	XP_006724679.1:p.Ser1616=
XM_011530849.1:c.4522T=	XP_011529151.1:p.Ser1508=
XM_011530851.1:c.2419T=	XP_011529153.1:p.Ser807=
XM_011530849.2:c.4861T=	XP_011529151.2:p.Ser1621=
XM_017029259.2:c.4852T=	XP_016884748.1:p.Ser1618=
XM_017029260.1:c.4843T=	XP_016884749.1:p.Ser1615=
XM_017029263.2:c.3181T=	XP_016884752.1:p.Ser1061=
NM_000495.5:c.4828T=	NP_000486.1:p.Ser1610=
NM_033380.3:c.4846T= MANE Select	NP_203699.1:p.Ser1616=