Canonical Allele Identifier: CA517926111

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938574T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695344T>C , CM000685.2:g.108695344T>C	GRCh38
NC_000023.10:g.107938574T>C , CM000685.1:g.107938574T>C	GRCh37
NC_000023.9:g.107825230T>C	NCBI36
NG_011977.1:g.260421T>C
NG_011977.2:g.260421T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4899T>C MANE Select	ENSP00000331902.7:p.Ala1633=
ENST00000361603.7:c.4881T>C	ENSP00000354505.2:p.Ala1627=
ENST00000510690.2:n.1393T>C
ENST00000644079.1:n.1730T>C
ENST00000328300.10:c.4899T>C	ENSP00000331902.6:p.Ala1633=
ENST00000361603.6:c.4881T>C	ENSP00000354505.2:p.Ala1627=
ENST00000504541.1:c.219+423T>C	ENSP00000424845.1:n.219+423T>C
ENST00000515658.1:c.325-953T>C
NM_000495.4:c.4881T>C	NP_000486.1:p.Ala1627=
NM_033380.2:c.4899T>C	NP_203699.1:p.Ala1633=
XM_005262070.2:c.4890T>C	XP_005262127.1:p.Ala1630=
XM_006724616.2:c.4899T>C	XP_006724679.1:p.Ala1633=
XM_011530849.1:c.4575T>C	XP_011529151.1:p.Ala1525=
XM_011530851.1:c.2472T>C	XP_011529153.1:p.Ala824=
XM_011530849.2:c.4914T>C	XP_011529151.2:p.Ala1638=
XM_017029259.2:c.4905T>C	XP_016884748.1:p.Ala1635=
XM_017029260.1:c.4896T>C	XP_016884749.1:p.Ala1632=
XM_017029263.2:c.3234T>C	XP_016884752.1:p.Ala1078=
NM_000495.5:c.4881T>C	NP_000486.1:p.Ala1627=
NM_033380.3:c.4899T>C MANE Select	NP_203699.1:p.Ala1633=