Canonical Allele Identifier: CA414132663

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938507C>A (hg19) ; chrX:g.108695277C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695277C>A , CM000685.2:g.108695277C>A	GRCh38
NC_000023.10:g.107938507C>A , CM000685.1:g.107938507C>A	GRCh37
NC_000023.9:g.107825163C>A	NCBI36
NG_011977.1:g.260354C>A
NG_011977.2:g.260354C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4832C>A MANE Select	ENSP00000331902.7:p.Ala1611Glu
ENST00000361603.7:c.4814C>A	ENSP00000354505.2:p.Ala1605Glu
ENST00000510690.2:n.1326C>A
ENST00000644079.1:n.1663C>A
ENST00000328300.10:c.4832C>A	ENSP00000331902.6:p.Ala1611Glu
ENST00000361603.6:c.4814C>A	ENSP00000354505.2:p.Ala1605Glu
ENST00000504541.1:c.219+356C>A	ENSP00000424845.1:n.219+356C>A
ENST00000515658.1:c.325-1020C>A
NM_000495.4:c.4814C>A	NP_000486.1:p.Ala1605Glu
NM_033380.2:c.4832C>A	NP_203699.1:p.Ala1611Glu
XM_005262070.2:c.4823C>A	XP_005262127.1:p.Ala1608Glu
XM_006724616.2:c.4832C>A	XP_006724679.1:p.Ala1611Glu
XM_011530849.1:c.4508C>A	XP_011529151.1:p.Ala1503Glu
XM_011530851.1:c.2405C>A	XP_011529153.1:p.Ala802Glu
XM_011530849.2:c.4847C>A	XP_011529151.2:p.Ala1616Glu
XM_017029259.2:c.4838C>A	XP_016884748.1:p.Ala1613Glu
XM_017029260.1:c.4829C>A	XP_016884749.1:p.Ala1610Glu
XM_017029263.2:c.3167C>A	XP_016884752.1:p.Ala1056Glu
NM_000495.5:c.4814C>A	NP_000486.1:p.Ala1605Glu
NM_033380.3:c.4832C>A MANE Select	NP_203699.1:p.Ala1611Glu