Canonical Allele Identifier: CA517926402

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107939605A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696375A>C , CM000685.2:g.108696375A>C	GRCh38
NC_000023.10:g.107939605A>C , CM000685.1:g.107939605A>C	GRCh37
NC_000023.9:g.107826261A>C	NCBI36
NG_011977.1:g.261452A>C
NG_011977.2:g.261452A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.5073A>C MANE Select	ENSP00000331902.7:p.Thr1691=
ENST00000361603.7:c.5055A>C	ENSP00000354505.2:p.Thr1685=
ENST00000510690.2:n.1567A>C
ENST00000644079.1:n.2761A>C
ENST00000328300.10:c.5073A>C	ENSP00000331902.6:p.Thr1691=
ENST00000361603.6:c.5055A>C	ENSP00000354505.2:p.Thr1685=
ENST00000504541.1:c.298A>C	ENSP00000424845.1:n.298A>C
ENST00000515658.1:c.403A>C
NM_000495.4:c.5055A>C	NP_000486.1:p.Thr1685=
NM_033380.2:c.5073A>C	NP_203699.1:p.Thr1691=
XM_005262070.2:c.5064A>C	XP_005262127.1:p.Thr1688=
XM_006724616.2:c.5073A>C	XP_006724679.1:p.Thr1691=
XM_011530849.1:c.4749A>C	XP_011529151.1:p.Thr1583=
XM_011530851.1:c.2646A>C	XP_011529153.1:p.Thr882=
XM_011530849.2:c.5088A>C	XP_011529151.2:p.Thr1696=
XM_017029259.2:c.5079A>C	XP_016884748.1:p.Thr1693=
XM_017029260.1:c.5070A>C	XP_016884749.1:p.Thr1690=
XM_017029263.2:c.3408A>C	XP_016884752.1:p.Thr1136=
NM_000495.5:c.5055A>C	NP_000486.1:p.Thr1685=
NM_033380.3:c.5073A>C MANE Select	NP_203699.1:p.Thr1691=