Canonical Allele Identifier: CA413851872

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107924993C>G (hg19) ; chrX:g.108681763C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681763C>G , CM000685.2:g.108681763C>G	GRCh38
NC_000023.10:g.107924993C>G , CM000685.1:g.107924993C>G	GRCh37
NC_000023.9:g.107811649C>G	NCBI36
NG_011977.1:g.246840C>G
NG_011977.2:g.246840C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4091C>G MANE Select	ENSP00000331902.7:p.Pro1364Arg
ENST00000361603.7:c.4073C>G	ENSP00000354505.2:p.Pro1358Arg
ENST00000510690.2:n.585C>G
ENST00000328300.10:c.4091C>G	ENSP00000331902.6:p.Pro1364Arg
ENST00000361603.6:c.4073C>G	ENSP00000354505.2:p.Pro1358Arg
ENST00000489230.1:n.494C>G
NM_000495.4:c.4073C>G	NP_000486.1:p.Pro1358Arg
NM_033380.2:c.4091C>G	NP_203699.1:p.Pro1364Arg
XM_005262070.2:c.4082C>G	XP_005262127.1:p.Pro1361Arg
XM_006724616.2:c.4091C>G	XP_006724679.1:p.Pro1364Arg
XM_011530849.1:c.3767C>G	XP_011529151.1:p.Pro1256Arg
XM_011530851.1:c.1664C>G	XP_011529153.1:p.Pro555Arg
XM_011530849.2:c.4106C>G	XP_011529151.2:p.Pro1369Arg
XM_017029259.2:c.4097C>G	XP_016884748.1:p.Pro1366Arg
XM_017029260.1:c.4088C>G	XP_016884749.1:p.Pro1363Arg
XM_017029263.2:c.2426C>G	XP_016884752.1:p.Pro809Arg
NM_000495.5:c.4073C>G	NP_000486.1:p.Pro1358Arg
NM_033380.3:c.4091C>G MANE Select	NP_203699.1:p.Pro1364Arg