Canonical Allele Identifier: CA413855204

Gene: COL4A5

Linked Data

• dbSNP Id: rs2068656335
• gnomAD v4: X-108692750-A-G
• MyVariant Identifiers: chrX:g.107935980A>G (hg19) ; chrX:g.108692750A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108692750A>G , CM000685.2:g.108692750A>G	GRCh38
NC_000023.10:g.107935980A>G , CM000685.1:g.107935980A>G	GRCh37
NC_000023.9:g.107822636A>G	NCBI36
NG_011977.1:g.257827A>G
NG_011977.2:g.257827A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4531A>G MANE Select	ENSP00000331902.7:p.Thr1511Ala
ENST00000361603.7:c.4513A>G	ENSP00000354505.2:p.Thr1505Ala
ENST00000510690.2:n.1025A>G
ENST00000328300.10:c.4531A>G	ENSP00000331902.6:p.Thr1511Ala
ENST00000361603.6:c.4513A>G	ENSP00000354505.2:p.Thr1505Ala
ENST00000515658.1:c.325-3547A>G
NM_000495.4:c.4513A>G	NP_000486.1:p.Thr1505Ala
NM_033380.2:c.4531A>G	NP_203699.1:p.Thr1511Ala
XM_005262070.2:c.4522A>G	XP_005262127.1:p.Thr1508Ala
XM_006724616.2:c.4531A>G	XP_006724679.1:p.Thr1511Ala
XM_011530849.1:c.4207A>G	XP_011529151.1:p.Thr1403Ala
XM_011530851.1:c.2104A>G	XP_011529153.1:p.Thr702Ala
XM_011530849.2:c.4546A>G	XP_011529151.2:p.Thr1516Ala
XM_017029259.2:c.4537A>G	XP_016884748.1:p.Thr1513Ala
XM_017029260.1:c.4528A>G	XP_016884749.1:p.Thr1510Ala
XM_017029263.2:c.2866A>G	XP_016884752.1:p.Thr956Ala
NM_000495.5:c.4513A>G	NP_000486.1:p.Thr1505Ala
NM_033380.3:c.4531A>G MANE Select	NP_203699.1:p.Thr1511Ala