Canonical Allele Identifier: CA413851227

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107924180C>A (hg19) ; chrX:g.108680950C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680950C>A , CM000685.2:g.108680950C>A	GRCh38
NC_000023.10:g.107924180C>A , CM000685.1:g.107924180C>A	GRCh37
NC_000023.9:g.107810836C>A	NCBI36
NG_011977.1:g.246027C>A
NG_011977.2:g.246027C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4081C>A MANE Select	ENSP00000331902.7:p.Pro1361Thr
ENST00000361603.7:c.4063C>A	ENSP00000354505.2:p.Pro1355Thr
ENST00000510690.2:n.575C>A
ENST00000328300.10:c.4081C>A	ENSP00000331902.6:p.Pro1361Thr
ENST00000361603.6:c.4063C>A	ENSP00000354505.2:p.Pro1355Thr
ENST00000489230.1:n.484C>A
NM_000495.4:c.4063C>A	NP_000486.1:p.Pro1355Thr
NM_033380.2:c.4081C>A	NP_203699.1:p.Pro1361Thr
XM_005262070.2:c.4072C>A	XP_005262127.1:p.Pro1358Thr
XM_006724616.2:c.4081C>A	XP_006724679.1:p.Pro1361Thr
XM_011530849.1:c.3757C>A	XP_011529151.1:p.Pro1253Thr
XM_011530851.1:c.1654C>A	XP_011529153.1:p.Pro552Thr
XM_011530849.2:c.4096C>A	XP_011529151.2:p.Pro1366Thr
XM_017029259.2:c.4087C>A	XP_016884748.1:p.Pro1363Thr
XM_017029260.1:c.4078C>A	XP_016884749.1:p.Pro1360Thr
XM_017029263.2:c.2416C>A	XP_016884752.1:p.Pro806Thr
NM_000495.5:c.4063C>A	NP_000486.1:p.Pro1355Thr
NM_033380.3:c.4081C>A MANE Select	NP_203699.1:p.Pro1361Thr