Canonical Allele Identifier: CA334054787

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680939G>A , CM000685.2:g.108680939G>A	GRCh38
NC_000023.10:g.107924169G>A , CM000685.1:g.107924169G>A	GRCh37
NC_000023.9:g.107810825G>A	NCBI36
NG_011977.1:g.246016G>A
NG_011977.2:g.246016G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033380.3:c.4070G>A MANE Select	NP_203699.1:p.Gly1357Glu
ENST00000328300.11:c.4070G>A MANE Select	ENSP00000331902.7:p.Gly1357Glu
NM_000495.4:c.4052G>A	NP_000486.1:p.Gly1351Glu
NM_000495.5:c.4052G>A	NP_000486.1:p.Gly1351Glu
NM_033380.2:c.4070G>A	NP_203699.1:p.Gly1357Glu
ENST00000328300.10:c.4070G>A	ENSP00000331902.6:p.Gly1357Glu
ENST00000361603.6:c.4052G>A	ENSP00000354505.2:p.Gly1351Glu
ENST00000361603.7:c.4052G>A	ENSP00000354505.2:p.Gly1351Glu
ENST00000489230.1:n.473G>A
ENST00000510690.2:n.564G>A
XM_005262070.2:c.4061G>A	XP_005262127.1:p.Gly1354Glu
XM_006724616.2:c.4070G>A	XP_006724679.1:p.Gly1357Glu
XM_011530849.1:c.3746G>A	XP_011529151.1:p.Gly1249Glu
XM_011530849.2:c.4085G>A	XP_011529151.2:p.Gly1362Glu
XM_011530851.1:c.1643G>A	XP_011529153.1:p.Gly548Glu
XM_017029259.2:c.4076G>A	XP_016884748.1:p.Gly1359Glu
XM_017029260.1:c.4067G>A	XP_016884749.1:p.Gly1356Glu
XM_017029263.2:c.2405G>A	XP_016884752.1:p.Gly802Glu