Canonical Allele Identifier: CA414133119

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107939567A>G (hg19) ; chrX:g.108696337A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696337A>G , CM000685.2:g.108696337A>G	GRCh38
NC_000023.10:g.107939567A>G , CM000685.1:g.107939567A>G	GRCh37
NC_000023.9:g.107826223A>G	NCBI36
NG_011977.1:g.261414A>G
NG_011977.2:g.261414A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.5035A>G MANE Select	ENSP00000331902.7:p.Thr1679Ala
ENST00000361603.7:c.5017A>G	ENSP00000354505.2:p.Thr1673Ala
ENST00000510690.2:n.1529A>G
ENST00000644079.1:n.2723A>G
ENST00000328300.10:c.5035A>G	ENSP00000331902.6:p.Thr1679Ala
ENST00000361603.6:c.5017A>G	ENSP00000354505.2:p.Thr1673Ala
ENST00000504541.1:c.260A>G	ENSP00000424845.1:n.260A>G
ENST00000515658.1:c.365A>G
NM_000495.4:c.5017A>G	NP_000486.1:p.Thr1673Ala
NM_033380.2:c.5035A>G	NP_203699.1:p.Thr1679Ala
XM_005262070.2:c.5026A>G	XP_005262127.1:p.Thr1676Ala
XM_006724616.2:c.5035A>G	XP_006724679.1:p.Thr1679Ala
XM_011530849.1:c.4711A>G	XP_011529151.1:p.Thr1571Ala
XM_011530851.1:c.2608A>G	XP_011529153.1:p.Thr870Ala
XM_011530849.2:c.5050A>G	XP_011529151.2:p.Thr1684Ala
XM_017029259.2:c.5041A>G	XP_016884748.1:p.Thr1681Ala
XM_017029260.1:c.5032A>G	XP_016884749.1:p.Thr1678Ala
XM_017029263.2:c.3370A>G	XP_016884752.1:p.Thr1124Ala
NM_000495.5:c.5017A>G	NP_000486.1:p.Thr1673Ala
NM_033380.3:c.5035A>G MANE Select	NP_203699.1:p.Thr1679Ala