Canonical Allele Identifier: CA414133063

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107939541A>T (hg19) ; chrX:g.108696311A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696311A>T , CM000685.2:g.108696311A>T	GRCh38
NC_000023.10:g.107939541A>T , CM000685.1:g.107939541A>T	GRCh37
NC_000023.9:g.107826197A>T	NCBI36
NG_011977.1:g.261388A>T
NG_011977.2:g.261388A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.5009A>T MANE Select	ENSP00000331902.7:p.Glu1670Val
ENST00000361603.7:c.4991A>T	ENSP00000354505.2:p.Glu1664Val
ENST00000510690.2:n.1503A>T
ENST00000644079.1:n.2697A>T
ENST00000328300.10:c.5009A>T	ENSP00000331902.6:p.Glu1670Val
ENST00000361603.6:c.4991A>T	ENSP00000354505.2:p.Glu1664Val
ENST00000504541.1:c.234A>T	ENSP00000424845.1:n.234A>T
ENST00000515658.1:c.339A>T
NM_000495.4:c.4991A>T	NP_000486.1:p.Glu1664Val
NM_033380.2:c.5009A>T	NP_203699.1:p.Glu1670Val
XM_005262070.2:c.5000A>T	XP_005262127.1:p.Glu1667Val
XM_006724616.2:c.5009A>T	XP_006724679.1:p.Glu1670Val
XM_011530849.1:c.4685A>T	XP_011529151.1:p.Glu1562Val
XM_011530851.1:c.2582A>T	XP_011529153.1:p.Glu861Val
XM_011530849.2:c.5024A>T	XP_011529151.2:p.Glu1675Val
XM_017029259.2:c.5015A>T	XP_016884748.1:p.Glu1672Val
XM_017029260.1:c.5006A>T	XP_016884749.1:p.Glu1669Val
XM_017029263.2:c.3344A>T	XP_016884752.1:p.Glu1115Val
NM_000495.5:c.4991A>T	NP_000486.1:p.Glu1664Val
NM_033380.3:c.5009A>T MANE Select	NP_203699.1:p.Glu1670Val