Canonical Allele Identifier: CA414132526

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938105G>C (hg19) ; chrX:g.108694875G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694875G>C , CM000685.2:g.108694875G>C	GRCh38
NC_000023.10:g.107938105G>C , CM000685.1:g.107938105G>C	GRCh37
NC_000023.9:g.107824761G>C	NCBI36
NG_011977.1:g.259952G>C
NG_011977.2:g.259952G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4775G>C MANE Select	ENSP00000331902.7:p.Cys1592Ser
ENST00000361603.7:c.4757G>C	ENSP00000354505.2:p.Cys1586Ser
ENST00000510690.2:n.1269G>C
ENST00000644079.1:n.1261G>C
ENST00000328300.10:c.4775G>C	ENSP00000331902.6:p.Cys1592Ser
ENST00000361603.6:c.4757G>C	ENSP00000354505.2:p.Cys1586Ser
ENST00000504541.1:c.173G>C	ENSP00000424845.1:p.Cys58Ser
ENST00000515658.1:c.325-1422G>C
NM_000495.4:c.4757G>C	NP_000486.1:p.Cys1586Ser
NM_033380.2:c.4775G>C	NP_203699.1:p.Cys1592Ser
XM_005262070.2:c.4766G>C	XP_005262127.1:p.Cys1589Ser
XM_006724616.2:c.4775G>C	XP_006724679.1:p.Cys1592Ser
XM_011530849.1:c.4451G>C	XP_011529151.1:p.Cys1484Ser
XM_011530851.1:c.2348G>C	XP_011529153.1:p.Cys783Ser
XM_011530849.2:c.4790G>C	XP_011529151.2:p.Cys1597Ser
XM_017029259.2:c.4781G>C	XP_016884748.1:p.Cys1594Ser
XM_017029260.1:c.4772G>C	XP_016884749.1:p.Cys1591Ser
XM_017029263.2:c.3110G>C	XP_016884752.1:p.Cys1037Ser
NM_000495.5:c.4757G>C	NP_000486.1:p.Cys1586Ser
NM_033380.3:c.4775G>C MANE Select	NP_203699.1:p.Cys1592Ser