Canonical Allele Identifier: CA517923853

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107925075G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681845G>T , CM000685.2:g.108681845G>T	GRCh38
NC_000023.10:g.107925075G>T , CM000685.1:g.107925075G>T	GRCh37
NC_000023.9:g.107811731G>T	NCBI36
NG_011977.1:g.246922G>T
NG_011977.2:g.246922G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4173G>T MANE Select	ENSP00000331902.7:p.Gly1391=
ENST00000361603.7:c.4155G>T	ENSP00000354505.2:p.Gly1385=
ENST00000510690.2:n.667G>T
ENST00000328300.10:c.4173G>T	ENSP00000331902.6:p.Gly1391=
ENST00000361603.6:c.4155G>T	ENSP00000354505.2:p.Gly1385=
ENST00000489230.1:n.576G>T
NM_000495.4:c.4155G>T	NP_000486.1:p.Gly1385=
NM_033380.2:c.4173G>T	NP_203699.1:p.Gly1391=
XM_005262070.2:c.4164G>T	XP_005262127.1:p.Gly1388=
XM_006724616.2:c.4173G>T	XP_006724679.1:p.Gly1391=
XM_011530849.1:c.3849G>T	XP_011529151.1:p.Gly1283=
XM_011530851.1:c.1746G>T	XP_011529153.1:p.Gly582=
XM_011530849.2:c.4188G>T	XP_011529151.2:p.Gly1396=
XM_017029259.2:c.4179G>T	XP_016884748.1:p.Gly1393=
XM_017029260.1:c.4170G>T	XP_016884749.1:p.Gly1390=
XM_017029263.2:c.2508G>T	XP_016884752.1:p.Gly836=
NM_000495.5:c.4155G>T	NP_000486.1:p.Gly1385=
NM_033380.3:c.4173G>T MANE Select	NP_203699.1:p.Gly1391=