Canonical Allele Identifier: CA413851924

Gene: COL4A5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4103C>T MANE Select	ENSP00000331902.7:p.Pro1368Leu
ENST00000361603.7:c.4085C>T	ENSP00000354505.2:p.Pro1362Leu
ENST00000510690.2:n.597C>T
ENST00000328300.10:c.4103C>T	ENSP00000331902.6:p.Pro1368Leu
ENST00000361603.6:c.4085C>T	ENSP00000354505.2:p.Pro1362Leu
ENST00000489230.1:n.506C>T
NM_000495.4:c.4085C>T	NP_000486.1:p.Pro1362Leu
NM_033380.2:c.4103C>T	NP_203699.1:p.Pro1368Leu
XM_005262070.2:c.4094C>T	XP_005262127.1:p.Pro1365Leu
XM_006724616.2:c.4103C>T	XP_006724679.1:p.Pro1368Leu
XM_011530849.1:c.3779C>T	XP_011529151.1:p.Pro1260Leu
XM_011530851.1:c.1676C>T	XP_011529153.1:p.Pro559Leu
XM_011530849.2:c.4118C>T	XP_011529151.2:p.Pro1373Leu
XM_017029259.2:c.4109C>T	XP_016884748.1:p.Pro1370Leu
XM_017029260.1:c.4100C>T	XP_016884749.1:p.Pro1367Leu
XM_017029263.2:c.2438C>T	XP_016884752.1:p.Pro813Leu
NM_000495.5:c.4085C>T	NP_000486.1:p.Pro1362Leu
NM_033380.3:c.4103C>T MANE Select	NP_203699.1:p.Pro1368Leu