Canonical Allele Identifier: CA413854112

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930772C>G (hg19) ; chrX:g.108687542C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687542C>G , CM000685.2:g.108687542C>G	GRCh38
NC_000023.10:g.107930772C>G , CM000685.1:g.107930772C>G	GRCh37
NC_000023.9:g.107817428C>G	NCBI36
NG_011977.1:g.252619C>G
NG_011977.2:g.252619C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4376C>G MANE Select	ENSP00000331902.7:p.Pro1459Arg
ENST00000361603.7:c.4358C>G	ENSP00000354505.2:p.Pro1453Arg
ENST00000510690.2:n.870C>G
ENST00000328300.10:c.4376C>G	ENSP00000331902.6:p.Pro1459Arg
ENST00000361603.6:c.4358C>G	ENSP00000354505.2:p.Pro1453Arg
ENST00000515658.1:c.172C>G
NM_000495.4:c.4358C>G	NP_000486.1:p.Pro1453Arg
NM_033380.2:c.4376C>G	NP_203699.1:p.Pro1459Arg
XM_005262070.2:c.4367C>G	XP_005262127.1:p.Pro1456Arg
XM_006724616.2:c.4376C>G	XP_006724679.1:p.Pro1459Arg
XM_011530849.1:c.4052C>G	XP_011529151.1:p.Pro1351Arg
XM_011530851.1:c.1949C>G	XP_011529153.1:p.Pro650Arg
XM_011530849.2:c.4391C>G	XP_011529151.2:p.Pro1464Arg
XM_017029259.2:c.4382C>G	XP_016884748.1:p.Pro1461Arg
XM_017029260.1:c.4373C>G	XP_016884749.1:p.Pro1458Arg
XM_017029263.2:c.2711C>G	XP_016884752.1:p.Pro904Arg
NM_000495.5:c.4358C>G	NP_000486.1:p.Pro1453Arg
NM_033380.3:c.4376C>G MANE Select	NP_203699.1:p.Pro1459Arg