Canonical Allele Identifier: CA413848512

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107911596C>A (hg19) ; chrX:g.108668366C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108668366C>A , CM000685.2:g.108668366C>A	GRCh38
NC_000023.10:g.107911596C>A , CM000685.1:g.107911596C>A	GRCh37
NC_000023.9:g.107798252C>A	NCBI36
NG_011977.1:g.233443C>A
NG_011977.2:g.233443C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3652C>A MANE Select	ENSP00000331902.7:p.Leu1218Ile
ENST00000361603.7:c.3652C>A	ENSP00000354505.2:p.Leu1218Ile
ENST00000328300.10:c.3652C>A	ENSP00000331902.6:p.Leu1218Ile
ENST00000361603.6:c.3652C>A	ENSP00000354505.2:p.Leu1218Ile
NM_000495.4:c.3652C>A	NP_000486.1:p.Leu1218Ile
NM_033380.2:c.3652C>A	NP_203699.1:p.Leu1218Ile
XM_005262070.2:c.3652C>A	XP_005262127.1:p.Leu1218Ile
XM_006724616.2:c.3652C>A	XP_006724679.1:p.Leu1218Ile
XM_011530849.1:c.3328C>A	XP_011529151.1:p.Leu1110Ile
XM_011530850.1:c.3652C>A	XP_011529152.1:p.Leu1218Ile
XM_011530851.1:c.1225C>A	XP_011529153.1:p.Leu409Ile
XM_011530849.2:c.3667C>A	XP_011529151.2:p.Leu1223Ile
XM_017029259.2:c.3667C>A	XP_016884748.1:p.Leu1223Ile
XM_017029260.1:c.3667C>A	XP_016884749.1:p.Leu1223Ile
XM_017029261.1:c.3667C>A	XP_016884750.1:p.Leu1223Ile
XM_017029262.2:c.3667C>A	XP_016884751.1:p.Leu1223Ile
XM_017029263.2:c.1987C>A	XP_016884752.1:p.Leu663Ile
NM_000495.5:c.3652C>A	NP_000486.1:p.Leu1218Ile
NM_033380.3:c.3652C>A MANE Select	NP_203699.1:p.Leu1218Ile