Canonical Allele Identifier: CA414133169

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107939593C>G (hg19) ; chrX:g.108696363C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696363C>G , CM000685.2:g.108696363C>G	GRCh38
NC_000023.10:g.107939593C>G , CM000685.1:g.107939593C>G	GRCh37
NC_000023.9:g.107826249C>G	NCBI36
NG_011977.1:g.261440C>G
NG_011977.2:g.261440C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.5061C>G MANE Select	ENSP00000331902.7:p.Cys1687Trp
ENST00000361603.7:c.5043C>G	ENSP00000354505.2:p.Cys1681Trp
ENST00000510690.2:n.1555C>G
ENST00000644079.1:n.2749C>G
ENST00000328300.10:c.5061C>G	ENSP00000331902.6:p.Cys1687Trp
ENST00000361603.6:c.5043C>G	ENSP00000354505.2:p.Cys1681Trp
ENST00000504541.1:c.286C>G	ENSP00000424845.1:n.286C>G
ENST00000515658.1:c.391C>G
NM_000495.4:c.5043C>G	NP_000486.1:p.Cys1681Trp
NM_033380.2:c.5061C>G	NP_203699.1:p.Cys1687Trp
XM_005262070.2:c.5052C>G	XP_005262127.1:p.Cys1684Trp
XM_006724616.2:c.5061C>G	XP_006724679.1:p.Cys1687Trp
XM_011530849.1:c.4737C>G	XP_011529151.1:p.Cys1579Trp
XM_011530851.1:c.2634C>G	XP_011529153.1:p.Cys878Trp
XM_011530849.2:c.5076C>G	XP_011529151.2:p.Cys1692Trp
XM_017029259.2:c.5067C>G	XP_016884748.1:p.Cys1689Trp
XM_017029260.1:c.5058C>G	XP_016884749.1:p.Cys1686Trp
XM_017029263.2:c.3396C>G	XP_016884752.1:p.Cys1132Trp
NM_000495.5:c.5043C>G	NP_000486.1:p.Cys1681Trp
NM_033380.3:c.5061C>G MANE Select	NP_203699.1:p.Cys1687Trp