Canonical Allele Identifier: CA413850836

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677590G>C , CM000685.2:g.108677590G>C	GRCh38
NC_000023.10:g.107920820G>C , CM000685.1:g.107920820G>C	GRCh37
NC_000023.9:g.107807476G>C	NCBI36
NG_011977.1:g.242667G>C
NG_011977.2:g.242667G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_033380.3:c.3899G>C MANE Select	NP_203699.1:p.Gly1300Ala
ENST00000328300.11:c.3899G>C MANE Select	ENSP00000331902.7:p.Gly1300Ala
NM_000495.4:c.3881G>C	NP_000486.1:p.Gly1294Ala
NM_000495.5:c.3881G>C	NP_000486.1:p.Gly1294Ala
NM_033380.2:c.3899G>C	NP_203699.1:p.Gly1300Ala
ENST00000328300.10:c.3899G>C	ENSP00000331902.6:p.Gly1300Ala
ENST00000361603.6:c.3881G>C	ENSP00000354505.2:p.Gly1294Ala
ENST00000361603.7:c.3881G>C	ENSP00000354505.2:p.Gly1294Ala
ENST00000489230.1:n.302G>C
ENST00000510690.2:n.393G>C
XM_005262070.2:c.3890G>C	XP_005262127.1:p.Gly1297Ala
XM_006724616.2:c.3899G>C	XP_006724679.1:p.Gly1300Ala
XM_011530849.1:c.3575G>C	XP_011529151.1:p.Gly1192Ala
XM_011530849.2:c.3914G>C	XP_011529151.2:p.Gly1305Ala
XM_011530851.1:c.1472G>C	XP_011529153.1:p.Gly491Ala
XM_017029259.2:c.3905G>C	XP_016884748.1:p.Gly1302Ala
XM_017029260.1:c.3896G>C	XP_016884749.1:p.Gly1299Ala
XM_017029261.1:c.3914G>C	XP_016884750.1:p.Gly1305Ala
XM_017029263.2:c.2234G>C	XP_016884752.1:p.Gly745Ala