Canonical Allele Identifier: CA413854008

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930745A>G (hg19) ; chrX:g.108687515A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687515A>G , CM000685.2:g.108687515A>G	GRCh38
NC_000023.10:g.107930745A>G , CM000685.1:g.107930745A>G	GRCh37
NC_000023.9:g.107817401A>G	NCBI36
NG_011977.1:g.252592A>G
NG_011977.2:g.252592A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4349A>G MANE Select	ENSP00000331902.7:p.Asp1450Gly
ENST00000361603.7:c.4331A>G	ENSP00000354505.2:p.Asp1444Gly
ENST00000510690.2:n.843A>G
ENST00000328300.10:c.4349A>G	ENSP00000331902.6:p.Asp1450Gly
ENST00000361603.6:c.4331A>G	ENSP00000354505.2:p.Asp1444Gly
ENST00000515658.1:c.145A>G
NM_000495.4:c.4331A>G	NP_000486.1:p.Asp1444Gly
NM_033380.2:c.4349A>G	NP_203699.1:p.Asp1450Gly
XM_005262070.2:c.4340A>G	XP_005262127.1:p.Asp1447Gly
XM_006724616.2:c.4349A>G	XP_006724679.1:p.Asp1450Gly
XM_011530849.1:c.4025A>G	XP_011529151.1:p.Asp1342Gly
XM_011530851.1:c.1922A>G	XP_011529153.1:p.Asp641Gly
XM_011530849.2:c.4364A>G	XP_011529151.2:p.Asp1455Gly
XM_017029259.2:c.4355A>G	XP_016884748.1:p.Asp1452Gly
XM_017029260.1:c.4346A>G	XP_016884749.1:p.Asp1449Gly
XM_017029263.2:c.2684A>G	XP_016884752.1:p.Asp895Gly
NM_000495.5:c.4331A>G	NP_000486.1:p.Asp1444Gly
NM_033380.3:c.4349A>G MANE Select	NP_203699.1:p.Asp1450Gly