Canonical Allele Identifier: CA413851922

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107925005C>A (hg19) ; chrX:g.108681775C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681775C>A , CM000685.2:g.108681775C>A	GRCh38
NC_000023.10:g.107925005C>A , CM000685.1:g.107925005C>A	GRCh37
NC_000023.9:g.107811661C>A	NCBI36
NG_011977.1:g.246852C>A
NG_011977.2:g.246852C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4103C>A MANE Select	ENSP00000331902.7:p.Pro1368His
ENST00000361603.7:c.4085C>A	ENSP00000354505.2:p.Pro1362His
ENST00000510690.2:n.597C>A
ENST00000328300.10:c.4103C>A	ENSP00000331902.6:p.Pro1368His
ENST00000361603.6:c.4085C>A	ENSP00000354505.2:p.Pro1362His
ENST00000489230.1:n.506C>A
NM_000495.4:c.4085C>A	NP_000486.1:p.Pro1362His
NM_033380.2:c.4103C>A	NP_203699.1:p.Pro1368His
XM_005262070.2:c.4094C>A	XP_005262127.1:p.Pro1365His
XM_006724616.2:c.4103C>A	XP_006724679.1:p.Pro1368His
XM_011530849.1:c.3779C>A	XP_011529151.1:p.Pro1260His
XM_011530851.1:c.1676C>A	XP_011529153.1:p.Pro559His
XM_011530849.2:c.4118C>A	XP_011529151.2:p.Pro1373His
XM_017029259.2:c.4109C>A	XP_016884748.1:p.Pro1370His
XM_017029260.1:c.4100C>A	XP_016884749.1:p.Pro1367His
XM_017029263.2:c.2438C>A	XP_016884752.1:p.Pro813His
NM_000495.5:c.4085C>A	NP_000486.1:p.Pro1362His
NM_033380.3:c.4103C>A MANE Select	NP_203699.1:p.Pro1368His