Canonical Allele Identifier: CA517924196

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107929346G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686116G>A , CM000685.2:g.108686116G>A	GRCh38
NC_000023.10:g.107929346G>A , CM000685.1:g.107929346G>A	GRCh37
NC_000023.9:g.107816002G>A	NCBI36
NG_011977.1:g.251193G>A
NG_011977.2:g.251193G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4302G>A MANE Select	ENSP00000331902.7:p.Leu1434=
ENST00000361603.7:c.4284G>A	ENSP00000354505.2:p.Leu1428=
ENST00000510690.2:n.796G>A
ENST00000328300.10:c.4302G>A	ENSP00000331902.6:p.Leu1434=
ENST00000361603.6:c.4284G>A	ENSP00000354505.2:p.Leu1428=
ENST00000489230.1:n.705G>A
ENST00000515658.1:c.98G>A
NM_000495.4:c.4284G>A	NP_000486.1:p.Leu1428=
NM_033380.2:c.4302G>A	NP_203699.1:p.Leu1434=
XM_005262070.2:c.4293G>A	XP_005262127.1:p.Leu1431=
XM_006724616.2:c.4302G>A	XP_006724679.1:p.Leu1434=
XM_011530849.1:c.3978G>A	XP_011529151.1:p.Leu1326=
XM_011530851.1:c.1875G>A	XP_011529153.1:p.Leu625=
XM_011530849.2:c.4317G>A	XP_011529151.2:p.Leu1439=
XM_017029259.2:c.4308G>A	XP_016884748.1:p.Leu1436=
XM_017029260.1:c.4299G>A	XP_016884749.1:p.Leu1433=
XM_017029263.2:c.2637G>A	XP_016884752.1:p.Leu879=
NM_000495.5:c.4284G>A	NP_000486.1:p.Leu1428=
NM_033380.3:c.4302G>A MANE Select	NP_203699.1:p.Leu1434=