Canonical Allele Identifier: CA517924480

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930761C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687531C>T , CM000685.2:g.108687531C>T	GRCh38
NC_000023.10:g.107930761C>T , CM000685.1:g.107930761C>T	GRCh37
NC_000023.9:g.107817417C>T	NCBI36
NG_011977.1:g.252608C>T
NG_011977.2:g.252608C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4365C>T MANE Select	ENSP00000331902.7:p.Pro1455=
ENST00000361603.7:c.4347C>T	ENSP00000354505.2:p.Pro1449=
ENST00000510690.2:n.859C>T
ENST00000328300.10:c.4365C>T	ENSP00000331902.6:p.Pro1455=
ENST00000361603.6:c.4347C>T	ENSP00000354505.2:p.Pro1449=
ENST00000515658.1:c.161C>T
NM_000495.4:c.4347C>T	NP_000486.1:p.Pro1449=
NM_033380.2:c.4365C>T	NP_203699.1:p.Pro1455=
XM_005262070.2:c.4356C>T	XP_005262127.1:p.Pro1452=
XM_006724616.2:c.4365C>T	XP_006724679.1:p.Pro1455=
XM_011530849.1:c.4041C>T	XP_011529151.1:p.Pro1347=
XM_011530851.1:c.1938C>T	XP_011529153.1:p.Pro646=
XM_011530849.2:c.4380C>T	XP_011529151.2:p.Pro1460=
XM_017029259.2:c.4371C>T	XP_016884748.1:p.Pro1457=
XM_017029260.1:c.4362C>T	XP_016884749.1:p.Pro1454=
XM_017029263.2:c.2700C>T	XP_016884752.1:p.Pro900=
NM_000495.5:c.4347C>T	NP_000486.1:p.Pro1449=
NM_033380.3:c.4365C>T MANE Select	NP_203699.1:p.Pro1455=