Canonical Allele Identifier: CA517924398

Gene: COL4A5

Linked Data

• gnomAD v4: X-108687489-T-C
• MyVariant Identifiers: chrX:g.107930719T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687489T>C , CM000685.2:g.108687489T>C	GRCh38
NC_000023.10:g.107930719T>C , CM000685.1:g.107930719T>C	GRCh37
NC_000023.9:g.107817375T>C	NCBI36
NG_011977.1:g.252566T>C
NG_011977.2:g.252566T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4323T>C MANE Select	ENSP00000331902.7:p.Arg1441=
ENST00000361603.7:c.4305T>C	ENSP00000354505.2:p.Arg1435=
ENST00000510690.2:n.817T>C
ENST00000328300.10:c.4323T>C	ENSP00000331902.6:p.Arg1441=
ENST00000361603.6:c.4305T>C	ENSP00000354505.2:p.Arg1435=
ENST00000489230.1:n.726T>C
ENST00000515658.1:c.119T>C
NM_000495.4:c.4305T>C	NP_000486.1:p.Arg1435=
NM_033380.2:c.4323T>C	NP_203699.1:p.Arg1441=
XM_005262070.2:c.4314T>C	XP_005262127.1:p.Arg1438=
XM_006724616.2:c.4323T>C	XP_006724679.1:p.Arg1441=
XM_011530849.1:c.3999T>C	XP_011529151.1:p.Arg1333=
XM_011530851.1:c.1896T>C	XP_011529153.1:p.Arg632=
XM_011530849.2:c.4338T>C	XP_011529151.2:p.Arg1446=
XM_017029259.2:c.4329T>C	XP_016884748.1:p.Arg1443=
XM_017029260.1:c.4320T>C	XP_016884749.1:p.Arg1440=
XM_017029263.2:c.2658T>C	XP_016884752.1:p.Arg886=
NM_000495.5:c.4305T>C	NP_000486.1:p.Arg1435=
NM_033380.3:c.4323T>C MANE Select	NP_203699.1:p.Arg1441=