Canonical Allele Identifier: CA259103

Gene: COL4A5

Linked Data

• dbSNP Id: rs104886289
• MyVariant Identifiers: chrX:g.107938104T>C (hg19) ; chrX:g.108694874T>C (hg38)
• PubMed: PMID:11462238

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694874T>C , CM000685.2:g.108694874T>C	GRCh38
NC_000023.10:g.107938104T>C , CM000685.1:g.107938104T>C	GRCh37
NC_000023.9:g.107824760T>C	NCBI36
NG_011977.1:g.259951T>C
NG_011977.2:g.259951T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4774T>C MANE Select	ENSP00000331902.7:p.Cys1592Arg
ENST00000361603.7:c.4756T>C	ENSP00000354505.2:p.Cys1586Arg
ENST00000510690.2:n.1268T>C
ENST00000644079.1:n.1260T>C
ENST00000328300.10:c.4774T>C	ENSP00000331902.6:p.Cys1592Arg
ENST00000361603.6:c.4756T>C	ENSP00000354505.2:p.Cys1586Arg
ENST00000504541.1:c.172T>C	ENSP00000424845.1:p.Cys58Arg
ENST00000515658.1:c.325-1423T>C
NM_000495.4:c.4756T>C	NP_000486.1:p.Cys1586Arg
NM_033380.2:c.4774T>C	NP_203699.1:p.Cys1592Arg
XM_005262070.2:c.4765T>C	XP_005262127.1:p.Cys1589Arg
XM_006724616.2:c.4774T>C	XP_006724679.1:p.Cys1592Arg
XM_011530849.1:c.4450T>C	XP_011529151.1:p.Cys1484Arg
XM_011530851.1:c.2347T>C	XP_011529153.1:p.Cys783Arg
XM_011530849.2:c.4789T>C	XP_011529151.2:p.Cys1597Arg
XM_017029259.2:c.4780T>C	XP_016884748.1:p.Cys1594Arg
XM_017029260.1:c.4771T>C	XP_016884749.1:p.Cys1591Arg
XM_017029263.2:c.3109T>C	XP_016884752.1:p.Cys1037Arg
NM_000495.5:c.4756T>C	NP_000486.1:p.Cys1586Arg
NM_033380.3:c.4774T>C MANE Select	NP_203699.1:p.Cys1592Arg