Canonical Allele Identifier: CA413852277

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681844G>T , CM000685.2:g.108681844G>T	GRCh38
NC_000023.10:g.107925074G>T , CM000685.1:g.107925074G>T	GRCh37
NC_000023.9:g.107811730G>T	NCBI36
NG_011977.1:g.246921G>T
NG_011977.2:g.246921G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033380.3:c.4172G>T MANE Select	NP_203699.1:p.Gly1391Val
ENST00000328300.11:c.4172G>T MANE Select	ENSP00000331902.7:p.Gly1391Val
NM_000495.4:c.4154G>T	NP_000486.1:p.Gly1385Val
NM_000495.5:c.4154G>T	NP_000486.1:p.Gly1385Val
NM_033380.2:c.4172G>T	NP_203699.1:p.Gly1391Val
ENST00000328300.10:c.4172G>T	ENSP00000331902.6:p.Gly1391Val
ENST00000361603.6:c.4154G>T	ENSP00000354505.2:p.Gly1385Val
ENST00000361603.7:c.4154G>T	ENSP00000354505.2:p.Gly1385Val
ENST00000489230.1:n.575G>T
ENST00000510690.2:n.666G>T
XM_005262070.2:c.4163G>T	XP_005262127.1:p.Gly1388Val
XM_006724616.2:c.4172G>T	XP_006724679.1:p.Gly1391Val
XM_011530849.1:c.3848G>T	XP_011529151.1:p.Gly1283Val
XM_011530849.2:c.4187G>T	XP_011529151.2:p.Gly1396Val
XM_011530851.1:c.1745G>T	XP_011529153.1:p.Gly582Val
XM_017029259.2:c.4178G>T	XP_016884748.1:p.Gly1393Val
XM_017029260.1:c.4169G>T	XP_016884749.1:p.Gly1390Val
XM_017029263.2:c.2507G>T	XP_016884752.1:p.Gly836Val