Canonical Allele Identifier: CA414132880

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938610C>A (hg19) ; chrX:g.108695380C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695380C>A , CM000685.2:g.108695380C>A	GRCh38
NC_000023.10:g.107938610C>A , CM000685.1:g.107938610C>A	GRCh37
NC_000023.9:g.107825266C>A	NCBI36
NG_011977.1:g.260457C>A
NG_011977.2:g.260457C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4935C>A MANE Select	ENSP00000331902.7:p.Asn1645Lys
ENST00000361603.7:c.4917C>A	ENSP00000354505.2:p.Asn1639Lys
ENST00000510690.2:n.1429C>A
ENST00000644079.1:n.1766C>A
ENST00000328300.10:c.4935C>A	ENSP00000331902.6:p.Asn1645Lys
ENST00000361603.6:c.4917C>A	ENSP00000354505.2:p.Asn1639Lys
ENST00000504541.1:c.219+459C>A	ENSP00000424845.1:n.219+459C>A
ENST00000515658.1:c.325-917C>A
NM_000495.4:c.4917C>A	NP_000486.1:p.Asn1639Lys
NM_033380.2:c.4935C>A	NP_203699.1:p.Asn1645Lys
XM_005262070.2:c.4926C>A	XP_005262127.1:p.Asn1642Lys
XM_006724616.2:c.4935C>A	XP_006724679.1:p.Asn1645Lys
XM_011530849.1:c.4611C>A	XP_011529151.1:p.Asn1537Lys
XM_011530851.1:c.2508C>A	XP_011529153.1:p.Asn836Lys
XM_011530849.2:c.4950C>A	XP_011529151.2:p.Asn1650Lys
XM_017029259.2:c.4941C>A	XP_016884748.1:p.Asn1647Lys
XM_017029260.1:c.4932C>A	XP_016884749.1:p.Asn1644Lys
XM_017029263.2:c.3270C>A	XP_016884752.1:p.Asn1090Lys
NM_000495.5:c.4917C>A	NP_000486.1:p.Asn1639Lys
NM_033380.3:c.4935C>A MANE Select	NP_203699.1:p.Asn1645Lys