Canonical Allele Identifier: CA413851867

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107924992C>T (hg19) ; chrX:g.108681762C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681762C>T , CM000685.2:g.108681762C>T	GRCh38
NC_000023.10:g.107924992C>T , CM000685.1:g.107924992C>T	GRCh37
NC_000023.9:g.107811648C>T	NCBI36
NG_011977.1:g.246839C>T
NG_011977.2:g.246839C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4090C>T MANE Select	ENSP00000331902.7:p.Pro1364Ser
ENST00000361603.7:c.4072C>T	ENSP00000354505.2:p.Pro1358Ser
ENST00000510690.2:n.584C>T
ENST00000328300.10:c.4090C>T	ENSP00000331902.6:p.Pro1364Ser
ENST00000361603.6:c.4072C>T	ENSP00000354505.2:p.Pro1358Ser
ENST00000489230.1:n.493C>T
NM_000495.4:c.4072C>T	NP_000486.1:p.Pro1358Ser
NM_033380.2:c.4090C>T	NP_203699.1:p.Pro1364Ser
XM_005262070.2:c.4081C>T	XP_005262127.1:p.Pro1361Ser
XM_006724616.2:c.4090C>T	XP_006724679.1:p.Pro1364Ser
XM_011530849.1:c.3766C>T	XP_011529151.1:p.Pro1256Ser
XM_011530851.1:c.1663C>T	XP_011529153.1:p.Pro555Ser
XM_011530849.2:c.4105C>T	XP_011529151.2:p.Pro1369Ser
XM_017029259.2:c.4096C>T	XP_016884748.1:p.Pro1366Ser
XM_017029260.1:c.4087C>T	XP_016884749.1:p.Pro1363Ser
XM_017029263.2:c.2425C>T	XP_016884752.1:p.Pro809Ser
NM_000495.5:c.4072C>T	NP_000486.1:p.Pro1358Ser
NM_033380.3:c.4090C>T MANE Select	NP_203699.1:p.Pro1364Ser