Canonical Allele Identifier: CA414133189

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107939601G>T (hg19) ; chrX:g.108696371G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696371G>T , CM000685.2:g.108696371G>T	GRCh38
NC_000023.10:g.107939601G>T , CM000685.1:g.107939601G>T	GRCh37
NC_000023.9:g.107826257G>T	NCBI36
NG_011977.1:g.261448G>T
NG_011977.2:g.261448G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.5069G>T MANE Select	ENSP00000331902.7:p.Arg1690Met
ENST00000361603.7:c.5051G>T	ENSP00000354505.2:p.Arg1684Met
ENST00000510690.2:n.1563G>T
ENST00000644079.1:n.2757G>T
ENST00000328300.10:c.5069G>T	ENSP00000331902.6:p.Arg1690Met
ENST00000361603.6:c.5051G>T	ENSP00000354505.2:p.Arg1684Met
ENST00000504541.1:c.294G>T	ENSP00000424845.1:n.294G>T
ENST00000515658.1:c.399G>T
NM_000495.4:c.5051G>T	NP_000486.1:p.Arg1684Met
NM_033380.2:c.5069G>T	NP_203699.1:p.Arg1690Met
XM_005262070.2:c.5060G>T	XP_005262127.1:p.Arg1687Met
XM_006724616.2:c.5069G>T	XP_006724679.1:p.Arg1690Met
XM_011530849.1:c.4745G>T	XP_011529151.1:p.Arg1582Met
XM_011530851.1:c.2642G>T	XP_011529153.1:p.Arg881Met
XM_011530849.2:c.5084G>T	XP_011529151.2:p.Arg1695Met
XM_017029259.2:c.5075G>T	XP_016884748.1:p.Arg1692Met
XM_017029260.1:c.5066G>T	XP_016884749.1:p.Arg1689Met
XM_017029263.2:c.3404G>T	XP_016884752.1:p.Arg1135Met
NM_000495.5:c.5051G>T	NP_000486.1:p.Arg1684Met
NM_033380.3:c.5069G>T MANE Select	NP_203699.1:p.Arg1690Met