Canonical Allele Identifier: CA414132826

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938585A>T (hg19) ; chrX:g.108695355A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695355A>T , CM000685.2:g.108695355A>T	GRCh38
NC_000023.10:g.107938585A>T , CM000685.1:g.107938585A>T	GRCh37
NC_000023.9:g.107825241A>T	NCBI36
NG_011977.1:g.260432A>T
NG_011977.2:g.260432A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4910A>T MANE Select	ENSP00000331902.7:p.Glu1637Val
ENST00000361603.7:c.4892A>T	ENSP00000354505.2:p.Glu1631Val
ENST00000510690.2:n.1404A>T
ENST00000644079.1:n.1741A>T
ENST00000328300.10:c.4910A>T	ENSP00000331902.6:p.Glu1637Val
ENST00000361603.6:c.4892A>T	ENSP00000354505.2:p.Glu1631Val
ENST00000504541.1:c.219+434A>T	ENSP00000424845.1:n.219+434A>T
ENST00000515658.1:c.325-942A>T
NM_000495.4:c.4892A>T	NP_000486.1:p.Glu1631Val
NM_033380.2:c.4910A>T	NP_203699.1:p.Glu1637Val
XM_005262070.2:c.4901A>T	XP_005262127.1:p.Glu1634Val
XM_006724616.2:c.4910A>T	XP_006724679.1:p.Glu1637Val
XM_011530849.1:c.4586A>T	XP_011529151.1:p.Glu1529Val
XM_011530851.1:c.2483A>T	XP_011529153.1:p.Glu828Val
XM_011530849.2:c.4925A>T	XP_011529151.2:p.Glu1642Val
XM_017029259.2:c.4916A>T	XP_016884748.1:p.Glu1639Val
XM_017029260.1:c.4907A>T	XP_016884749.1:p.Glu1636Val
XM_017029263.2:c.3245A>T	XP_016884752.1:p.Glu1082Val
NM_000495.5:c.4892A>T	NP_000486.1:p.Glu1631Val
NM_033380.3:c.4910A>T MANE Select	NP_203699.1:p.Glu1637Val