Canonical Allele Identifier: CA414132517

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938101C>A (hg19) ; chrX:g.108694871C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694871C>A , CM000685.2:g.108694871C>A	GRCh38
NC_000023.10:g.107938101C>A , CM000685.1:g.107938101C>A	GRCh37
NC_000023.9:g.107824757C>A	NCBI36
NG_011977.1:g.259948C>A
NG_011977.2:g.259948C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4771C>A MANE Select	ENSP00000331902.7:p.His1591Asn
ENST00000361603.7:c.4753C>A	ENSP00000354505.2:p.His1585Asn
ENST00000510690.2:n.1265C>A
ENST00000644079.1:n.1257C>A
ENST00000328300.10:c.4771C>A	ENSP00000331902.6:p.His1591Asn
ENST00000361603.6:c.4753C>A	ENSP00000354505.2:p.His1585Asn
ENST00000504541.1:c.169C>A	ENSP00000424845.1:p.His57Asn
ENST00000515658.1:c.325-1426C>A
NM_000495.4:c.4753C>A	NP_000486.1:p.His1585Asn
NM_033380.2:c.4771C>A	NP_203699.1:p.His1591Asn
XM_005262070.2:c.4762C>A	XP_005262127.1:p.His1588Asn
XM_006724616.2:c.4771C>A	XP_006724679.1:p.His1591Asn
XM_011530849.1:c.4447C>A	XP_011529151.1:p.His1483Asn
XM_011530851.1:c.2344C>A	XP_011529153.1:p.His782Asn
XM_011530849.2:c.4786C>A	XP_011529151.2:p.His1596Asn
XM_017029259.2:c.4777C>A	XP_016884748.1:p.His1593Asn
XM_017029260.1:c.4768C>A	XP_016884749.1:p.His1590Asn
XM_017029263.2:c.3106C>A	XP_016884752.1:p.His1036Asn
NM_000495.5:c.4753C>A	NP_000486.1:p.His1585Asn
NM_033380.3:c.4771C>A MANE Select	NP_203699.1:p.His1591Asn