Canonical Allele Identifier: CA414132582

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938130G>T (hg19) ; chrX:g.108694900G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694900G>T , CM000685.2:g.108694900G>T	GRCh38
NC_000023.10:g.107938130G>T , CM000685.1:g.107938130G>T	GRCh37
NC_000023.9:g.107824786G>T	NCBI36
NG_011977.1:g.259977G>T
NG_011977.2:g.259977G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4800G>T MANE Select	ENSP00000331902.7:p.Trp1600Cys
ENST00000361603.7:c.4782G>T	ENSP00000354505.2:p.Trp1594Cys
ENST00000510690.2:n.1294G>T
ENST00000644079.1:n.1286G>T
ENST00000328300.10:c.4800G>T	ENSP00000331902.6:p.Trp1600Cys
ENST00000361603.6:c.4782G>T	ENSP00000354505.2:p.Trp1594Cys
ENST00000504541.1:c.198G>T	ENSP00000424845.1:p.Trp66Cys
ENST00000515658.1:c.325-1397G>T
NM_000495.4:c.4782G>T	NP_000486.1:p.Trp1594Cys
NM_033380.2:c.4800G>T	NP_203699.1:p.Trp1600Cys
XM_005262070.2:c.4791G>T	XP_005262127.1:p.Trp1597Cys
XM_006724616.2:c.4800G>T	XP_006724679.1:p.Trp1600Cys
XM_011530849.1:c.4476G>T	XP_011529151.1:p.Trp1492Cys
XM_011530851.1:c.2373G>T	XP_011529153.1:p.Trp791Cys
XM_011530849.2:c.4815G>T	XP_011529151.2:p.Trp1605Cys
XM_017029259.2:c.4806G>T	XP_016884748.1:p.Trp1602Cys
XM_017029260.1:c.4797G>T	XP_016884749.1:p.Trp1599Cys
XM_017029263.2:c.3135G>T	XP_016884752.1:p.Trp1045Cys
NM_000495.5:c.4782G>T	NP_000486.1:p.Trp1594Cys
NM_033380.3:c.4800G>T MANE Select	NP_203699.1:p.Trp1600Cys