Canonical Allele Identifier: CA413853721

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107929327G>C (hg19) ; chrX:g.108686097G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686097G>C , CM000685.2:g.108686097G>C	GRCh38
NC_000023.10:g.107929327G>C , CM000685.1:g.107929327G>C	GRCh37
NC_000023.9:g.107815983G>C	NCBI36
NG_011977.1:g.251174G>C
NG_011977.2:g.251174G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4283G>C MANE Select	ENSP00000331902.7:p.Arg1428Pro
ENST00000361603.7:c.4265G>C	ENSP00000354505.2:p.Arg1422Pro
ENST00000510690.2:n.777G>C
ENST00000328300.10:c.4283G>C	ENSP00000331902.6:p.Arg1428Pro
ENST00000361603.6:c.4265G>C	ENSP00000354505.2:p.Arg1422Pro
ENST00000489230.1:n.686G>C
ENST00000515658.1:c.79G>C
NM_000495.4:c.4265G>C	NP_000486.1:p.Arg1422Pro
NM_033380.2:c.4283G>C	NP_203699.1:p.Arg1428Pro
XM_005262070.2:c.4274G>C	XP_005262127.1:p.Arg1425Pro
XM_006724616.2:c.4283G>C	XP_006724679.1:p.Arg1428Pro
XM_011530849.1:c.3959G>C	XP_011529151.1:p.Arg1320Pro
XM_011530851.1:c.1856G>C	XP_011529153.1:p.Arg619Pro
XM_011530849.2:c.4298G>C	XP_011529151.2:p.Arg1433Pro
XM_017029259.2:c.4289G>C	XP_016884748.1:p.Arg1430Pro
XM_017029260.1:c.4280G>C	XP_016884749.1:p.Arg1427Pro
XM_017029263.2:c.2618G>C	XP_016884752.1:p.Arg873Pro
NM_000495.5:c.4265G>C	NP_000486.1:p.Arg1422Pro
NM_033380.3:c.4283G>C MANE Select	NP_203699.1:p.Arg1428Pro