Canonical Allele Identifier: CA413851198

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107924166C>G (hg19) ; chrX:g.108680936C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680936C>G , CM000685.2:g.108680936C>G	GRCh38
NC_000023.10:g.107924166C>G , CM000685.1:g.107924166C>G	GRCh37
NC_000023.9:g.107810822C>G	NCBI36
NG_011977.1:g.246013C>G
NG_011977.2:g.246013C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4067C>G MANE Select	ENSP00000331902.7:p.Pro1356Arg
ENST00000361603.7:c.4049C>G	ENSP00000354505.2:p.Pro1350Arg
ENST00000510690.2:n.561C>G
ENST00000328300.10:c.4067C>G	ENSP00000331902.6:p.Pro1356Arg
ENST00000361603.6:c.4049C>G	ENSP00000354505.2:p.Pro1350Arg
ENST00000489230.1:n.470C>G
NM_000495.4:c.4049C>G	NP_000486.1:p.Pro1350Arg
NM_033380.2:c.4067C>G	NP_203699.1:p.Pro1356Arg
XM_005262070.2:c.4058C>G	XP_005262127.1:p.Pro1353Arg
XM_006724616.2:c.4067C>G	XP_006724679.1:p.Pro1356Arg
XM_011530849.1:c.3743C>G	XP_011529151.1:p.Pro1248Arg
XM_011530851.1:c.1640C>G	XP_011529153.1:p.Pro547Arg
XM_011530849.2:c.4082C>G	XP_011529151.2:p.Pro1361Arg
XM_017029259.2:c.4073C>G	XP_016884748.1:p.Pro1358Arg
XM_017029260.1:c.4064C>G	XP_016884749.1:p.Pro1355Arg
XM_017029263.2:c.2402C>G	XP_016884752.1:p.Pro801Arg
NM_000495.5:c.4049C>G	NP_000486.1:p.Pro1350Arg
NM_033380.3:c.4067C>G MANE Select	NP_203699.1:p.Pro1356Arg