Canonical Allele Identifier: CA413850377

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107920793G>T (hg19) ; chrX:g.108677563G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677563G>T , CM000685.2:g.108677563G>T	GRCh38
NC_000023.10:g.107920793G>T , CM000685.1:g.107920793G>T	GRCh37
NC_000023.9:g.107807449G>T	NCBI36
NG_011977.1:g.242640G>T
NG_011977.2:g.242640G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3872G>T MANE Select	ENSP00000331902.7:p.Gly1291Val
ENST00000361603.7:c.3854G>T	ENSP00000354505.2:p.Gly1285Val
ENST00000510690.2:n.366G>T
ENST00000328300.10:c.3872G>T	ENSP00000331902.6:p.Gly1291Val
ENST00000361603.6:c.3854G>T	ENSP00000354505.2:p.Gly1285Val
ENST00000489230.1:n.275G>T
ENST00000510690.1:n.366G>T
NM_000495.4:c.3854G>T	NP_000486.1:p.Gly1285Val
NM_033380.2:c.3872G>T	NP_203699.1:p.Gly1291Val
XM_005262070.2:c.3863G>T	XP_005262127.1:p.Gly1288Val
XM_006724616.2:c.3872G>T	XP_006724679.1:p.Gly1291Val
XM_011530849.1:c.3548G>T	XP_011529151.1:p.Gly1183Val
XM_011530851.1:c.1445G>T	XP_011529153.1:p.Gly482Val
XM_011530849.2:c.3887G>T	XP_011529151.2:p.Gly1296Val
XM_017029259.2:c.3878G>T	XP_016884748.1:p.Gly1293Val
XM_017029260.1:c.3869G>T	XP_016884749.1:p.Gly1290Val
XM_017029261.1:c.3887G>T	XP_016884750.1:p.Gly1296Val
XM_017029263.2:c.2207G>T	XP_016884752.1:p.Gly736Val
NM_000495.5:c.3854G>T	NP_000486.1:p.Gly1285Val
NM_033380.3:c.3872G>T MANE Select	NP_203699.1:p.Gly1291Val