Canonical Allele Identifier: CA334055393

Gene: COL4A5

Linked Data

• dbSNP Id: rs104886407
• MyVariant Identifiers: chrX:g.107925100G>A (hg19) ; chrX:g.108681870G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681870G>A , CM000685.2:g.108681870G>A	GRCh38
NC_000023.10:g.107925100G>A , CM000685.1:g.107925100G>A	GRCh37
NC_000023.9:g.107811756G>A	NCBI36
NG_011977.1:g.246947G>A
NG_011977.2:g.246947G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4198G>A MANE Select	ENSP00000331902.7:p.Gly1400Arg
ENST00000361603.7:c.4180G>A	ENSP00000354505.2:p.Gly1394Arg
ENST00000510690.2:n.692G>A
ENST00000328300.10:c.4198G>A	ENSP00000331902.6:p.Gly1400Arg
ENST00000361603.6:c.4180G>A	ENSP00000354505.2:p.Gly1394Arg
ENST00000489230.1:n.601G>A
NM_000495.4:c.4180G>A	NP_000486.1:p.Gly1394Arg
NM_033380.2:c.4198G>A	NP_203699.1:p.Gly1400Arg
XM_005262070.2:c.4189G>A	XP_005262127.1:p.Gly1397Arg
XM_006724616.2:c.4198G>A	XP_006724679.1:p.Gly1400Arg
XM_011530849.1:c.3874G>A	XP_011529151.1:p.Gly1292Arg
XM_011530851.1:c.1771G>A	XP_011529153.1:p.Gly591Arg
XM_011530849.2:c.4213G>A	XP_011529151.2:p.Gly1405Arg
XM_017029259.2:c.4204G>A	XP_016884748.1:p.Gly1402Arg
XM_017029260.1:c.4195G>A	XP_016884749.1:p.Gly1399Arg
XM_017029263.2:c.2533G>A	XP_016884752.1:p.Gly845Arg
NM_000495.5:c.4180G>A	NP_000486.1:p.Gly1394Arg
NM_033380.3:c.4198G>A MANE Select	NP_203699.1:p.Gly1400Arg