Canonical Allele Identifier: CA413853362

Gene: COL4A5

Linked Data

• gnomAD v4: X-108686036-A-G
• MyVariant Identifiers: chrX:g.107929266A>G (hg19) ; chrX:g.108686036A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686036A>G , CM000685.2:g.108686036A>G	GRCh38
NC_000023.10:g.107929266A>G , CM000685.1:g.107929266A>G	GRCh37
NC_000023.9:g.107815922A>G	NCBI36
NG_011977.1:g.251113A>G
NG_011977.2:g.251113A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4222A>G MANE Select	ENSP00000331902.7:p.Thr1408Ala
ENST00000361603.7:c.4204A>G	ENSP00000354505.2:p.Thr1402Ala
ENST00000510690.2:n.716A>G
ENST00000328300.10:c.4222A>G	ENSP00000331902.6:p.Thr1408Ala
ENST00000361603.6:c.4204A>G	ENSP00000354505.2:p.Thr1402Ala
ENST00000489230.1:n.625A>G
ENST00000515658.1:c.18A>G
NM_000495.4:c.4204A>G	NP_000486.1:p.Thr1402Ala
NM_033380.2:c.4222A>G	NP_203699.1:p.Thr1408Ala
XM_005262070.2:c.4213A>G	XP_005262127.1:p.Thr1405Ala
XM_006724616.2:c.4222A>G	XP_006724679.1:p.Thr1408Ala
XM_011530849.1:c.3898A>G	XP_011529151.1:p.Thr1300Ala
XM_011530851.1:c.1795A>G	XP_011529153.1:p.Thr599Ala
XM_011530849.2:c.4237A>G	XP_011529151.2:p.Thr1413Ala
XM_017029259.2:c.4228A>G	XP_016884748.1:p.Thr1410Ala
XM_017029260.1:c.4219A>G	XP_016884749.1:p.Thr1407Ala
XM_017029263.2:c.2557A>G	XP_016884752.1:p.Thr853Ala
NM_000495.5:c.4204A>G	NP_000486.1:p.Thr1402Ala
NM_033380.3:c.4222A>G MANE Select	NP_203699.1:p.Thr1408Ala