Canonical Allele Identifier: CA517925090

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107936003C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108692773C>T , CM000685.2:g.108692773C>T	GRCh38
NC_000023.10:g.107936003C>T , CM000685.1:g.107936003C>T	GRCh37
NC_000023.9:g.107822659C>T	NCBI36
NG_011977.1:g.257850C>T
NG_011977.2:g.257850C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4554C>T MANE Select	ENSP00000331902.7:p.Arg1518=
ENST00000361603.7:c.4536C>T	ENSP00000354505.2:p.Arg1512=
ENST00000510690.2:n.1048C>T
ENST00000328300.10:c.4554C>T	ENSP00000331902.6:p.Arg1518=
ENST00000361603.6:c.4536C>T	ENSP00000354505.2:p.Arg1512=
ENST00000515658.1:c.325-3524C>T
NM_000495.4:c.4536C>T	NP_000486.1:p.Arg1512=
NM_033380.2:c.4554C>T	NP_203699.1:p.Arg1518=
XM_005262070.2:c.4545C>T	XP_005262127.1:p.Arg1515=
XM_006724616.2:c.4554C>T	XP_006724679.1:p.Arg1518=
XM_011530849.1:c.4230C>T	XP_011529151.1:p.Arg1410=
XM_011530851.1:c.2127C>T	XP_011529153.1:p.Arg709=
XM_011530849.2:c.4569C>T	XP_011529151.2:p.Arg1523=
XM_017029259.2:c.4560C>T	XP_016884748.1:p.Arg1520=
XM_017029260.1:c.4551C>T	XP_016884749.1:p.Arg1517=
XM_017029263.2:c.2889C>T	XP_016884752.1:p.Arg963=
NM_000495.5:c.4536C>T	NP_000486.1:p.Arg1512=
NM_033380.3:c.4554C>T MANE Select	NP_203699.1:p.Arg1518=