Canonical Allele Identifier: CA259094

Gene: COL4A5

Linked Data

• dbSNP Id: rs281874746
• MyVariant Identifiers: chrX:g.107938050G>A (hg19) ; chrX:g.108694820G>A (hg38)
• PubMed: PMID:19965530 ; PMID:19965532

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694820G>A , CM000685.2:g.108694820G>A	GRCh38
NC_000023.10:g.107938050G>A , CM000685.1:g.107938050G>A	GRCh37
NC_000023.9:g.107824706G>A	NCBI36
NG_011977.1:g.259897G>A
NG_011977.2:g.259897G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4720G>A MANE Select	ENSP00000331902.7:p.Glu1574Lys
ENST00000361603.7:c.4702G>A	ENSP00000354505.2:p.Glu1568Lys
ENST00000510690.2:n.1214G>A
ENST00000644079.1:n.1206G>A
ENST00000328300.10:c.4720G>A	ENSP00000331902.6:p.Glu1574Lys
ENST00000361603.6:c.4702G>A	ENSP00000354505.2:p.Glu1568Lys
ENST00000504541.1:c.118G>A	ENSP00000424845.1:p.Glu40Lys
ENST00000515658.1:c.325-1477G>A
NM_000495.4:c.4702G>A	NP_000486.1:p.Glu1568Lys
NM_033380.2:c.4720G>A	NP_203699.1:p.Glu1574Lys
XM_005262070.2:c.4711G>A	XP_005262127.1:p.Glu1571Lys
XM_006724616.2:c.4720G>A	XP_006724679.1:p.Glu1574Lys
XM_011530849.1:c.4396G>A	XP_011529151.1:p.Glu1466Lys
XM_011530851.1:c.2293G>A	XP_011529153.1:p.Glu765Lys
XM_011530849.2:c.4735G>A	XP_011529151.2:p.Glu1579Lys
XM_017029259.2:c.4726G>A	XP_016884748.1:p.Glu1576Lys
XM_017029260.1:c.4717G>A	XP_016884749.1:p.Glu1573Lys
XM_017029263.2:c.3055G>A	XP_016884752.1:p.Glu1019Lys
NM_000495.5:c.4702G>A	NP_000486.1:p.Glu1568Lys
NM_033380.3:c.4720G>A MANE Select	NP_203699.1:p.Glu1574Lys