Canonical Allele Identifier: CA413854159

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930784C>A (hg19) ; chrX:g.108687554C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687554C>A , CM000685.2:g.108687554C>A	GRCh38
NC_000023.10:g.107930784C>A , CM000685.1:g.107930784C>A	GRCh37
NC_000023.9:g.107817440C>A	NCBI36
NG_011977.1:g.252631C>A
NG_011977.2:g.252631C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4388C>A MANE Select	ENSP00000331902.7:p.Ser1463Tyr
ENST00000361603.7:c.4370C>A	ENSP00000354505.2:p.Ser1457Tyr
ENST00000510690.2:n.882C>A
ENST00000328300.10:c.4388C>A	ENSP00000331902.6:p.Ser1463Tyr
ENST00000361603.6:c.4370C>A	ENSP00000354505.2:p.Ser1457Tyr
ENST00000515658.1:c.184C>A
NM_000495.4:c.4370C>A	NP_000486.1:p.Ser1457Tyr
NM_033380.2:c.4388C>A	NP_203699.1:p.Ser1463Tyr
XM_005262070.2:c.4379C>A	XP_005262127.1:p.Ser1460Tyr
XM_006724616.2:c.4388C>A	XP_006724679.1:p.Ser1463Tyr
XM_011530849.1:c.4064C>A	XP_011529151.1:p.Ser1355Tyr
XM_011530851.1:c.1961C>A	XP_011529153.1:p.Ser654Tyr
XM_011530849.2:c.4403C>A	XP_011529151.2:p.Ser1468Tyr
XM_017029259.2:c.4394C>A	XP_016884748.1:p.Ser1465Tyr
XM_017029260.1:c.4385C>A	XP_016884749.1:p.Ser1462Tyr
XM_017029263.2:c.2723C>A	XP_016884752.1:p.Ser908Tyr
NM_000495.5:c.4370C>A	NP_000486.1:p.Ser1457Tyr
NM_033380.3:c.4388C>A MANE Select	NP_203699.1:p.Ser1463Tyr