Canonical Allele Identifier: CA517924647

Gene: COL4A5

Linked Data

• COSMIC: COSM6184611 ; COSM6184612
• MyVariant Identifiers: chrX:g.107930878T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687648T>A , CM000685.2:g.108687648T>A	GRCh38
NC_000023.10:g.107930878T>A , CM000685.1:g.107930878T>A	GRCh37
NC_000023.9:g.107817534T>A	NCBI36
NG_011977.1:g.252725T>A
NG_011977.2:g.252725T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4482T>A MANE Select	ENSP00000331902.7:p.Ser1494=
ENST00000361603.7:c.4464T>A	ENSP00000354505.2:p.Ser1488=
ENST00000510690.2:n.976T>A
ENST00000328300.10:c.4482T>A	ENSP00000331902.6:p.Ser1494=
ENST00000361603.6:c.4464T>A	ENSP00000354505.2:p.Ser1488=
ENST00000515658.1:c.278T>A
NM_000495.4:c.4464T>A	NP_000486.1:p.Ser1488=
NM_033380.2:c.4482T>A	NP_203699.1:p.Ser1494=
XM_005262070.2:c.4473T>A	XP_005262127.1:p.Ser1491=
XM_006724616.2:c.4482T>A	XP_006724679.1:p.Ser1494=
XM_011530849.1:c.4158T>A	XP_011529151.1:p.Ser1386=
XM_011530851.1:c.2055T>A	XP_011529153.1:p.Ser685=
XM_011530849.2:c.4497T>A	XP_011529151.2:p.Ser1499=
XM_017029259.2:c.4488T>A	XP_016884748.1:p.Ser1496=
XM_017029260.1:c.4479T>A	XP_016884749.1:p.Ser1493=
XM_017029263.2:c.2817T>A	XP_016884752.1:p.Ser939=
NM_000495.5:c.4464T>A	NP_000486.1:p.Ser1488=
NM_033380.3:c.4482T>A MANE Select	NP_203699.1:p.Ser1494=