Canonical Allele Identifier: CA259153

Gene: COL4A5

Linked Data

• dbSNP Id: rs104886310
• MyVariant Identifiers: chrX:g.107939582T>C (hg19) ; chrX:g.108696352T>C (hg38)
• PubMed: PMID:12105244

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696352T>C , CM000685.2:g.108696352T>C	GRCh38
NC_000023.10:g.107939582T>C , CM000685.1:g.107939582T>C	GRCh37
NC_000023.9:g.107826238T>C	NCBI36
NG_011977.1:g.261429T>C
NG_011977.2:g.261429T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.5050T>C MANE Select	ENSP00000331902.7:p.Cys1684Arg
ENST00000361603.7:c.5032T>C	ENSP00000354505.2:p.Cys1678Arg
ENST00000510690.2:n.1544T>C
ENST00000644079.1:n.2738T>C
ENST00000328300.10:c.5050T>C	ENSP00000331902.6:p.Cys1684Arg
ENST00000361603.6:c.5032T>C	ENSP00000354505.2:p.Cys1678Arg
ENST00000504541.1:c.275T>C	ENSP00000424845.1:n.275T>C
ENST00000515658.1:c.380T>C
NM_000495.4:c.5032T>C	NP_000486.1:p.Cys1678Arg
NM_033380.2:c.5050T>C	NP_203699.1:p.Cys1684Arg
XM_005262070.2:c.5041T>C	XP_005262127.1:p.Cys1681Arg
XM_006724616.2:c.5050T>C	XP_006724679.1:p.Cys1684Arg
XM_011530849.1:c.4726T>C	XP_011529151.1:p.Cys1576Arg
XM_011530851.1:c.2623T>C	XP_011529153.1:p.Cys875Arg
XM_011530849.2:c.5065T>C	XP_011529151.2:p.Cys1689Arg
XM_017029259.2:c.5056T>C	XP_016884748.1:p.Cys1686Arg
XM_017029260.1:c.5047T>C	XP_016884749.1:p.Cys1683Arg
XM_017029263.2:c.3385T>C	XP_016884752.1:p.Cys1129Arg
NM_000495.5:c.5032T>C	NP_000486.1:p.Cys1678Arg
NM_033380.3:c.5050T>C MANE Select	NP_203699.1:p.Cys1684Arg