Canonical Allele Identifier: CA413851161

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107924148C>A (hg19) ; chrX:g.108680918C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680918C>A , CM000685.2:g.108680918C>A	GRCh38
NC_000023.10:g.107924148C>A , CM000685.1:g.107924148C>A	GRCh37
NC_000023.9:g.107810804C>A	NCBI36
NG_011977.1:g.245995C>A
NG_011977.2:g.245995C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4049C>A MANE Select	ENSP00000331902.7:p.Ala1350Asp
ENST00000361603.7:c.4031C>A	ENSP00000354505.2:p.Ala1344Asp
ENST00000510690.2:n.543C>A
ENST00000328300.10:c.4049C>A	ENSP00000331902.6:p.Ala1350Asp
ENST00000361603.6:c.4031C>A	ENSP00000354505.2:p.Ala1344Asp
ENST00000489230.1:n.452C>A
NM_000495.4:c.4031C>A	NP_000486.1:p.Ala1344Asp
NM_033380.2:c.4049C>A	NP_203699.1:p.Ala1350Asp
XM_005262070.2:c.4040C>A	XP_005262127.1:p.Ala1347Asp
XM_006724616.2:c.4049C>A	XP_006724679.1:p.Ala1350Asp
XM_011530849.1:c.3725C>A	XP_011529151.1:p.Ala1242Asp
XM_011530851.1:c.1622C>A	XP_011529153.1:p.Ala541Asp
XM_011530849.2:c.4064C>A	XP_011529151.2:p.Ala1355Asp
XM_017029259.2:c.4055C>A	XP_016884748.1:p.Ala1352Asp
XM_017029260.1:c.4046C>A	XP_016884749.1:p.Ala1349Asp
XM_017029263.2:c.2384C>A	XP_016884752.1:p.Ala795Asp
NM_000495.5:c.4031C>A	NP_000486.1:p.Ala1344Asp
NM_033380.3:c.4049C>A MANE Select	NP_203699.1:p.Ala1350Asp