Canonical Allele Identifier: CA414132428

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938060C>A (hg19) ; chrX:g.108694830C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694830C>A , CM000685.2:g.108694830C>A	GRCh38
NC_000023.10:g.107938060C>A , CM000685.1:g.107938060C>A	GRCh37
NC_000023.9:g.107824716C>A	NCBI36
NG_011977.1:g.259907C>A
NG_011977.2:g.259907C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4730C>A MANE Select	ENSP00000331902.7:p.Ala1577Asp
ENST00000361603.7:c.4712C>A	ENSP00000354505.2:p.Ala1571Asp
ENST00000510690.2:n.1224C>A
ENST00000644079.1:n.1216C>A
ENST00000328300.10:c.4730C>A	ENSP00000331902.6:p.Ala1577Asp
ENST00000361603.6:c.4712C>A	ENSP00000354505.2:p.Ala1571Asp
ENST00000504541.1:c.128C>A	ENSP00000424845.1:p.Ala43Asp
ENST00000515658.1:c.325-1467C>A
NM_000495.4:c.4712C>A	NP_000486.1:p.Ala1571Asp
NM_033380.2:c.4730C>A	NP_203699.1:p.Ala1577Asp
XM_005262070.2:c.4721C>A	XP_005262127.1:p.Ala1574Asp
XM_006724616.2:c.4730C>A	XP_006724679.1:p.Ala1577Asp
XM_011530849.1:c.4406C>A	XP_011529151.1:p.Ala1469Asp
XM_011530851.1:c.2303C>A	XP_011529153.1:p.Ala768Asp
XM_011530849.2:c.4745C>A	XP_011529151.2:p.Ala1582Asp
XM_017029259.2:c.4736C>A	XP_016884748.1:p.Ala1579Asp
XM_017029260.1:c.4727C>A	XP_016884749.1:p.Ala1576Asp
XM_017029263.2:c.3065C>A	XP_016884752.1:p.Ala1022Asp
NM_000495.5:c.4712C>A	NP_000486.1:p.Ala1571Asp
NM_033380.3:c.4730C>A MANE Select	NP_203699.1:p.Ala1577Asp