Canonical Allele Identifier: CA517924404

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930722T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687492T>C , CM000685.2:g.108687492T>C	GRCh38
NC_000023.10:g.107930722T>C , CM000685.1:g.107930722T>C	GRCh37
NC_000023.9:g.107817378T>C	NCBI36
NG_011977.1:g.252569T>C
NG_011977.2:g.252569T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4326T>C MANE Select	ENSP00000331902.7:p.Gly1442=
ENST00000361603.7:c.4308T>C	ENSP00000354505.2:p.Gly1436=
ENST00000510690.2:n.820T>C
ENST00000328300.10:c.4326T>C	ENSP00000331902.6:p.Gly1442=
ENST00000361603.6:c.4308T>C	ENSP00000354505.2:p.Gly1436=
ENST00000489230.1:n.729T>C
ENST00000515658.1:c.122T>C
NM_000495.4:c.4308T>C	NP_000486.1:p.Gly1436=
NM_033380.2:c.4326T>C	NP_203699.1:p.Gly1442=
XM_005262070.2:c.4317T>C	XP_005262127.1:p.Gly1439=
XM_006724616.2:c.4326T>C	XP_006724679.1:p.Gly1442=
XM_011530849.1:c.4002T>C	XP_011529151.1:p.Gly1334=
XM_011530851.1:c.1899T>C	XP_011529153.1:p.Gly633=
XM_011530849.2:c.4341T>C	XP_011529151.2:p.Gly1447=
XM_017029259.2:c.4332T>C	XP_016884748.1:p.Gly1444=
XM_017029260.1:c.4323T>C	XP_016884749.1:p.Gly1441=
XM_017029263.2:c.2661T>C	XP_016884752.1:p.Gly887=
NM_000495.5:c.4308T>C	NP_000486.1:p.Gly1436=
NM_033380.3:c.4326T>C MANE Select	NP_203699.1:p.Gly1442=