Canonical Allele Identifier: CA413854285

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930818C>A (hg19) ; chrX:g.108687588C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687588C>A , CM000685.2:g.108687588C>A	GRCh38
NC_000023.10:g.107930818C>A , CM000685.1:g.107930818C>A	GRCh37
NC_000023.9:g.107817474C>A	NCBI36
NG_011977.1:g.252665C>A
NG_011977.2:g.252665C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4422C>A MANE Select	ENSP00000331902.7:p.Ser1474Arg
ENST00000361603.7:c.4404C>A	ENSP00000354505.2:p.Ser1468Arg
ENST00000510690.2:n.916C>A
ENST00000328300.10:c.4422C>A	ENSP00000331902.6:p.Ser1474Arg
ENST00000361603.6:c.4404C>A	ENSP00000354505.2:p.Ser1468Arg
ENST00000515658.1:c.218C>A
NM_000495.4:c.4404C>A	NP_000486.1:p.Ser1468Arg
NM_033380.2:c.4422C>A	NP_203699.1:p.Ser1474Arg
XM_005262070.2:c.4413C>A	XP_005262127.1:p.Ser1471Arg
XM_006724616.2:c.4422C>A	XP_006724679.1:p.Ser1474Arg
XM_011530849.1:c.4098C>A	XP_011529151.1:p.Ser1366Arg
XM_011530851.1:c.1995C>A	XP_011529153.1:p.Ser665Arg
XM_011530849.2:c.4437C>A	XP_011529151.2:p.Ser1479Arg
XM_017029259.2:c.4428C>A	XP_016884748.1:p.Ser1476Arg
XM_017029260.1:c.4419C>A	XP_016884749.1:p.Ser1473Arg
XM_017029263.2:c.2757C>A	XP_016884752.1:p.Ser919Arg
NM_000495.5:c.4404C>A	NP_000486.1:p.Ser1468Arg
NM_033380.3:c.4422C>A MANE Select	NP_203699.1:p.Ser1474Arg