Canonical Allele Identifier: CA517925515

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938037A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694807A>C , CM000685.2:g.108694807A>C	GRCh38
NC_000023.10:g.107938037A>C , CM000685.1:g.107938037A>C	GRCh37
NC_000023.9:g.107824693A>C	NCBI36
NG_011977.1:g.259884A>C
NG_011977.2:g.259884A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4707A>C MANE Select	ENSP00000331902.7:p.Arg1569=
ENST00000361603.7:c.4689A>C	ENSP00000354505.2:p.Arg1563=
ENST00000510690.2:n.1201A>C
ENST00000644079.1:n.1193A>C
ENST00000328300.10:c.4707A>C	ENSP00000331902.6:p.Arg1569=
ENST00000361603.6:c.4689A>C	ENSP00000354505.2:p.Arg1563=
ENST00000504541.1:c.105A>C	ENSP00000424845.1:p.Arg35=
ENST00000515658.1:c.325-1490A>C
NM_000495.4:c.4689A>C	NP_000486.1:p.Arg1563=
NM_033380.2:c.4707A>C	NP_203699.1:p.Arg1569=
XM_005262070.2:c.4698A>C	XP_005262127.1:p.Arg1566=
XM_006724616.2:c.4707A>C	XP_006724679.1:p.Arg1569=
XM_011530849.1:c.4383A>C	XP_011529151.1:p.Arg1461=
XM_011530851.1:c.2280A>C	XP_011529153.1:p.Arg760=
XM_011530849.2:c.4722A>C	XP_011529151.2:p.Arg1574=
XM_017029259.2:c.4713A>C	XP_016884748.1:p.Arg1571=
XM_017029260.1:c.4704A>C	XP_016884749.1:p.Arg1568=
XM_017029263.2:c.3042A>C	XP_016884752.1:p.Arg1014=
NM_000495.5:c.4689A>C	NP_000486.1:p.Arg1563=
NM_033380.3:c.4707A>C MANE Select	NP_203699.1:p.Arg1569=