Canonical Allele Identifier: CA517926330

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107939554A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696324A>T , CM000685.2:g.108696324A>T	GRCh38
NC_000023.10:g.107939554A>T , CM000685.1:g.107939554A>T	GRCh37
NC_000023.9:g.107826210A>T	NCBI36
NG_011977.1:g.261401A>T
NG_011977.2:g.261401A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.5022A>T MANE Select	ENSP00000331902.7:p.Ala1674=
ENST00000361603.7:c.5004A>T	ENSP00000354505.2:p.Ala1668=
ENST00000510690.2:n.1516A>T
ENST00000644079.1:n.2710A>T
ENST00000328300.10:c.5022A>T	ENSP00000331902.6:p.Ala1674=
ENST00000361603.6:c.5004A>T	ENSP00000354505.2:p.Ala1668=
ENST00000504541.1:c.247A>T	ENSP00000424845.1:n.247A>T
ENST00000515658.1:c.352A>T
NM_000495.4:c.5004A>T	NP_000486.1:p.Ala1668=
NM_033380.2:c.5022A>T	NP_203699.1:p.Ala1674=
XM_005262070.2:c.5013A>T	XP_005262127.1:p.Ala1671=
XM_006724616.2:c.5022A>T	XP_006724679.1:p.Ala1674=
XM_011530849.1:c.4698A>T	XP_011529151.1:p.Ala1566=
XM_011530851.1:c.2595A>T	XP_011529153.1:p.Ala865=
XM_011530849.2:c.5037A>T	XP_011529151.2:p.Ala1679=
XM_017029259.2:c.5028A>T	XP_016884748.1:p.Ala1676=
XM_017029260.1:c.5019A>T	XP_016884749.1:p.Ala1673=
XM_017029263.2:c.3357A>T	XP_016884752.1:p.Ala1119=
NM_000495.5:c.5004A>T	NP_000486.1:p.Ala1668=
NM_033380.3:c.5022A>T MANE Select	NP_203699.1:p.Ala1674=