Canonical Allele Identifier: CA414133136

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107939576A>T (hg19) ; chrX:g.108696346A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696346A>T , CM000685.2:g.108696346A>T	GRCh38
NC_000023.10:g.107939576A>T , CM000685.1:g.107939576A>T	GRCh37
NC_000023.9:g.107826232A>T	NCBI36
NG_011977.1:g.261423A>T
NG_011977.2:g.261423A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.5044A>T MANE Select	ENSP00000331902.7:p.Ser1682Cys
ENST00000361603.7:c.5026A>T	ENSP00000354505.2:p.Ser1676Cys
ENST00000510690.2:n.1538A>T
ENST00000644079.1:n.2732A>T
ENST00000328300.10:c.5044A>T	ENSP00000331902.6:p.Ser1682Cys
ENST00000361603.6:c.5026A>T	ENSP00000354505.2:p.Ser1676Cys
ENST00000504541.1:c.269A>T	ENSP00000424845.1:n.269A>T
ENST00000515658.1:c.374A>T
NM_000495.4:c.5026A>T	NP_000486.1:p.Ser1676Cys
NM_033380.2:c.5044A>T	NP_203699.1:p.Ser1682Cys
XM_005262070.2:c.5035A>T	XP_005262127.1:p.Ser1679Cys
XM_006724616.2:c.5044A>T	XP_006724679.1:p.Ser1682Cys
XM_011530849.1:c.4720A>T	XP_011529151.1:p.Ser1574Cys
XM_011530851.1:c.2617A>T	XP_011529153.1:p.Ser873Cys
XM_011530849.2:c.5059A>T	XP_011529151.2:p.Ser1687Cys
XM_017029259.2:c.5050A>T	XP_016884748.1:p.Ser1684Cys
XM_017029260.1:c.5041A>T	XP_016884749.1:p.Ser1681Cys
XM_017029263.2:c.3379A>T	XP_016884752.1:p.Ser1127Cys
NM_000495.5:c.5026A>T	NP_000486.1:p.Ser1676Cys
NM_033380.3:c.5044A>T MANE Select	NP_203699.1:p.Ser1682Cys