Canonical Allele Identifier: CA414132396

Gene: COL4A5

Linked Data

• gnomAD v4: X-108694812-C-T
• MyVariant Identifiers: chrX:g.107938042C>T (hg19) ; chrX:g.108694812C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694812C>T , CM000685.2:g.108694812C>T	GRCh38
NC_000023.10:g.107938042C>T , CM000685.1:g.107938042C>T	GRCh37
NC_000023.9:g.107824698C>T	NCBI36
NG_011977.1:g.259889C>T
NG_011977.2:g.259889C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4712C>T MANE Select	ENSP00000331902.7:p.Ala1571Val
ENST00000361603.7:c.4694C>T	ENSP00000354505.2:p.Ala1565Val
ENST00000510690.2:n.1206C>T
ENST00000644079.1:n.1198C>T
ENST00000328300.10:c.4712C>T	ENSP00000331902.6:p.Ala1571Val
ENST00000361603.6:c.4694C>T	ENSP00000354505.2:p.Ala1565Val
ENST00000504541.1:c.110C>T	ENSP00000424845.1:p.Ala37Val
ENST00000515658.1:c.325-1485C>T
NM_000495.4:c.4694C>T	NP_000486.1:p.Ala1565Val
NM_033380.2:c.4712C>T	NP_203699.1:p.Ala1571Val
XM_005262070.2:c.4703C>T	XP_005262127.1:p.Ala1568Val
XM_006724616.2:c.4712C>T	XP_006724679.1:p.Ala1571Val
XM_011530849.1:c.4388C>T	XP_011529151.1:p.Ala1463Val
XM_011530851.1:c.2285C>T	XP_011529153.1:p.Ala762Val
XM_011530849.2:c.4727C>T	XP_011529151.2:p.Ala1576Val
XM_017029259.2:c.4718C>T	XP_016884748.1:p.Ala1573Val
XM_017029260.1:c.4709C>T	XP_016884749.1:p.Ala1570Val
XM_017029263.2:c.3047C>T	XP_016884752.1:p.Ala1016Val
NM_000495.5:c.4694C>T	NP_000486.1:p.Ala1565Val
NM_033380.3:c.4712C>T MANE Select	NP_203699.1:p.Ala1571Val