Canonical Allele Identifier: CA413855224

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107935984C>G (hg19) ; chrX:g.108692754C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108692754C>G , CM000685.2:g.108692754C>G	GRCh38
NC_000023.10:g.107935984C>G , CM000685.1:g.107935984C>G	GRCh37
NC_000023.9:g.107822640C>G	NCBI36
NG_011977.1:g.257831C>G
NG_011977.2:g.257831C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4535C>G MANE Select	ENSP00000331902.7:p.Ala1512Gly
ENST00000361603.7:c.4517C>G	ENSP00000354505.2:p.Ala1506Gly
ENST00000510690.2:n.1029C>G
ENST00000328300.10:c.4535C>G	ENSP00000331902.6:p.Ala1512Gly
ENST00000361603.6:c.4517C>G	ENSP00000354505.2:p.Ala1506Gly
ENST00000515658.1:c.325-3543C>G
NM_000495.4:c.4517C>G	NP_000486.1:p.Ala1506Gly
NM_033380.2:c.4535C>G	NP_203699.1:p.Ala1512Gly
XM_005262070.2:c.4526C>G	XP_005262127.1:p.Ala1509Gly
XM_006724616.2:c.4535C>G	XP_006724679.1:p.Ala1512Gly
XM_011530849.1:c.4211C>G	XP_011529151.1:p.Ala1404Gly
XM_011530851.1:c.2108C>G	XP_011529153.1:p.Ala703Gly
XM_011530849.2:c.4550C>G	XP_011529151.2:p.Ala1517Gly
XM_017029259.2:c.4541C>G	XP_016884748.1:p.Ala1514Gly
XM_017029260.1:c.4532C>G	XP_016884749.1:p.Ala1511Gly
XM_017029263.2:c.2870C>G	XP_016884752.1:p.Ala957Gly
NM_000495.5:c.4517C>G	NP_000486.1:p.Ala1506Gly
NM_033380.3:c.4535C>G MANE Select	NP_203699.1:p.Ala1512Gly