Canonical Allele Identifier: CA261099

Gene: COL4A5

Linked Data

• dbSNP Id: rs281874735
• MyVariant Identifiers: chrX:g.107930712G>T (hg19) ; chrX:g.108687482G>T (hg38)
• PubMed: PMID:21505094

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687482G>T , CM000685.2:g.108687482G>T	GRCh38
NC_000023.10:g.107930712G>T , CM000685.1:g.107930712G>T	GRCh37
NC_000023.9:g.107817368G>T	NCBI36
NG_011977.1:g.252559G>T
NG_011977.2:g.252559G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4316G>T MANE Select	ENSP00000331902.7:p.Gly1439Val
ENST00000361603.7:c.4298G>T	ENSP00000354505.2:p.Gly1433Val
ENST00000510690.2:n.810G>T
ENST00000328300.10:c.4316G>T	ENSP00000331902.6:p.Gly1439Val
ENST00000361603.6:c.4298G>T	ENSP00000354505.2:p.Gly1433Val
ENST00000489230.1:n.719G>T
ENST00000515658.1:c.112G>T
NM_000495.4:c.4298G>T	NP_000486.1:p.Gly1433Val
NM_033380.2:c.4316G>T	NP_203699.1:p.Gly1439Val
XM_005262070.2:c.4307G>T	XP_005262127.1:p.Gly1436Val
XM_006724616.2:c.4316G>T	XP_006724679.1:p.Gly1439Val
XM_011530849.1:c.3992G>T	XP_011529151.1:p.Gly1331Val
XM_011530851.1:c.1889G>T	XP_011529153.1:p.Gly630Val
XM_011530849.2:c.4331G>T	XP_011529151.2:p.Gly1444Val
XM_017029259.2:c.4322G>T	XP_016884748.1:p.Gly1441Val
XM_017029260.1:c.4313G>T	XP_016884749.1:p.Gly1438Val
XM_017029263.2:c.2651G>T	XP_016884752.1:p.Gly884Val
NM_000495.5:c.4298G>T	NP_000486.1:p.Gly1433Val
NM_033380.3:c.4316G>T MANE Select	NP_203699.1:p.Gly1439Val