Canonical Allele Identifier: CA414132602

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938141C>G (hg19) ; chrX:g.108694911C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694911C>G , CM000685.2:g.108694911C>G	GRCh38
NC_000023.10:g.107938141C>G , CM000685.1:g.107938141C>G	GRCh37
NC_000023.9:g.107824797C>G	NCBI36
NG_011977.1:g.259988C>G
NG_011977.2:g.259988C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4811C>G MANE Select	ENSP00000331902.7:p.Ser1604Cys
ENST00000361603.7:c.4793C>G	ENSP00000354505.2:p.Ser1598Cys
ENST00000510690.2:n.1305C>G
ENST00000644079.1:n.1297C>G
ENST00000328300.10:c.4811C>G	ENSP00000331902.6:p.Ser1604Cys
ENST00000361603.6:c.4793C>G	ENSP00000354505.2:p.Ser1598Cys
ENST00000504541.1:c.209C>G	ENSP00000424845.1:p.Ser70Cys
ENST00000515658.1:c.325-1386C>G
NM_000495.4:c.4793C>G	NP_000486.1:p.Ser1598Cys
NM_033380.2:c.4811C>G	NP_203699.1:p.Ser1604Cys
XM_005262070.2:c.4802C>G	XP_005262127.1:p.Ser1601Cys
XM_006724616.2:c.4811C>G	XP_006724679.1:p.Ser1604Cys
XM_011530849.1:c.4487C>G	XP_011529151.1:p.Ser1496Cys
XM_011530851.1:c.2384C>G	XP_011529153.1:p.Ser795Cys
XM_011530849.2:c.4826C>G	XP_011529151.2:p.Ser1609Cys
XM_017029259.2:c.4817C>G	XP_016884748.1:p.Ser1606Cys
XM_017029260.1:c.4808C>G	XP_016884749.1:p.Ser1603Cys
XM_017029263.2:c.3146C>G	XP_016884752.1:p.Ser1049Cys
NM_000495.5:c.4793C>G	NP_000486.1:p.Ser1598Cys
NM_033380.3:c.4811C>G MANE Select	NP_203699.1:p.Ser1604Cys