Canonical Allele Identifier: CA413854424

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930839A>T (hg19) ; chrX:g.108687609A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687609A>T , CM000685.2:g.108687609A>T	GRCh38
NC_000023.10:g.107930839A>T , CM000685.1:g.107930839A>T	GRCh37
NC_000023.9:g.107817495A>T	NCBI36
NG_011977.1:g.252686A>T
NG_011977.2:g.252686A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4443A>T MANE Select	ENSP00000331902.7:p.Gln1481His
ENST00000361603.7:c.4425A>T	ENSP00000354505.2:p.Gln1475His
ENST00000510690.2:n.937A>T
ENST00000328300.10:c.4443A>T	ENSP00000331902.6:p.Gln1481His
ENST00000361603.6:c.4425A>T	ENSP00000354505.2:p.Gln1475His
ENST00000515658.1:c.239A>T
NM_000495.4:c.4425A>T	NP_000486.1:p.Gln1475His
NM_033380.2:c.4443A>T	NP_203699.1:p.Gln1481His
XM_005262070.2:c.4434A>T	XP_005262127.1:p.Gln1478His
XM_006724616.2:c.4443A>T	XP_006724679.1:p.Gln1481His
XM_011530849.1:c.4119A>T	XP_011529151.1:p.Gln1373His
XM_011530851.1:c.2016A>T	XP_011529153.1:p.Gln672His
XM_011530849.2:c.4458A>T	XP_011529151.2:p.Gln1486His
XM_017029259.2:c.4449A>T	XP_016884748.1:p.Gln1483His
XM_017029260.1:c.4440A>T	XP_016884749.1:p.Gln1480His
XM_017029263.2:c.2778A>T	XP_016884752.1:p.Gln926His
NM_000495.5:c.4425A>T	NP_000486.1:p.Gln1475His
NM_033380.3:c.4443A>T MANE Select	NP_203699.1:p.Gln1481His