Canonical Allele Identifier: CA414133202

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107939607A>T (hg19) ; chrX:g.108696377A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696377A>T , CM000685.2:g.108696377A>T	GRCh38
NC_000023.10:g.107939607A>T , CM000685.1:g.107939607A>T	GRCh37
NC_000023.9:g.107826263A>T	NCBI36
NG_011977.1:g.261454A>T
NG_011977.2:g.261454A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.5075A>T MANE Select	ENSP00000331902.7:p.Ter1692Leu
ENST00000361603.7:c.5057A>T	ENSP00000354505.2:p.Ter1686Leu
ENST00000510690.2:n.1569A>T
ENST00000644079.1:n.2763A>T
ENST00000328300.10:c.5075A>T	ENSP00000331902.6:p.Ter1692Leu
ENST00000361603.6:c.5057A>T	ENSP00000354505.2:p.Ter1686Leu
ENST00000504541.1:c.300A>T	ENSP00000424845.1:n.300A>T
ENST00000515658.1:c.405A>T
NM_000495.4:c.5057A>T	NP_000486.1:p.Ter1686Leu
NM_033380.2:c.5075A>T	NP_203699.1:p.Ter1692Leu
XM_005262070.2:c.5066A>T	XP_005262127.1:p.Ter1689Leu
XM_006724616.2:c.5075A>T	XP_006724679.1:p.Ter1692Leu
XM_011530849.1:c.4751A>T	XP_011529151.1:p.Ter1584Leu
XM_011530851.1:c.2648A>T	XP_011529153.1:p.Ter883Leu
XM_011530849.2:c.5090A>T	XP_011529151.2:p.Ter1697Leu
XM_017029259.2:c.5081A>T	XP_016884748.1:p.Ter1694Leu
XM_017029260.1:c.5072A>T	XP_016884749.1:p.Ter1691Leu
XM_017029263.2:c.3410A>T	XP_016884752.1:p.Ter1137Leu
NM_000495.5:c.5057A>T	NP_000486.1:p.Ter1686Leu
NM_033380.3:c.5075A>T MANE Select	NP_203699.1:p.Ter1692Leu