Canonical Allele Identifier: CA517926150

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938643A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695413A>C , CM000685.2:g.108695413A>C	GRCh38
NC_000023.10:g.107938643A>C , CM000685.1:g.107938643A>C	GRCh37
NC_000023.9:g.107825299A>C	NCBI36
NG_011977.1:g.260490A>C
NG_011977.2:g.260490A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4968A>C MANE Select	ENSP00000331902.7:p.Ala1656=
ENST00000361603.7:c.4950A>C	ENSP00000354505.2:p.Ala1650=
ENST00000510690.2:n.1462A>C
ENST00000644079.1:n.1799A>C
ENST00000328300.10:c.4968A>C	ENSP00000331902.6:p.Ala1656=
ENST00000361603.6:c.4950A>C	ENSP00000354505.2:p.Ala1650=
ENST00000504541.1:c.219+492A>C	ENSP00000424845.1:n.219+492A>C
ENST00000515658.1:c.325-884A>C
NM_000495.4:c.4950A>C	NP_000486.1:p.Ala1650=
NM_033380.2:c.4968A>C	NP_203699.1:p.Ala1656=
XM_005262070.2:c.4959A>C	XP_005262127.1:p.Ala1653=
XM_006724616.2:c.4968A>C	XP_006724679.1:p.Ala1656=
XM_011530849.1:c.4644A>C	XP_011529151.1:p.Ala1548=
XM_011530851.1:c.2541A>C	XP_011529153.1:p.Ala847=
XM_011530849.2:c.4983A>C	XP_011529151.2:p.Ala1661=
XM_017029259.2:c.4974A>C	XP_016884748.1:p.Ala1658=
XM_017029260.1:c.4965A>C	XP_016884749.1:p.Ala1655=
XM_017029263.2:c.3303A>C	XP_016884752.1:p.Ala1101=
NM_000495.5:c.4950A>C	NP_000486.1:p.Ala1650=
NM_033380.3:c.4968A>C MANE Select	NP_203699.1:p.Ala1656=