Canonical Allele Identifier: CA414133184

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107939599G>T (hg19) ; chrX:g.108696369G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696369G>T , CM000685.2:g.108696369G>T	GRCh38
NC_000023.10:g.107939599G>T , CM000685.1:g.107939599G>T	GRCh37
NC_000023.9:g.107826255G>T	NCBI36
NG_011977.1:g.261446G>T
NG_011977.2:g.261446G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.5067G>T MANE Select	ENSP00000331902.7:p.Lys1689Asn
ENST00000361603.7:c.5049G>T	ENSP00000354505.2:p.Lys1683Asn
ENST00000510690.2:n.1561G>T
ENST00000644079.1:n.2755G>T
ENST00000328300.10:c.5067G>T	ENSP00000331902.6:p.Lys1689Asn
ENST00000361603.6:c.5049G>T	ENSP00000354505.2:p.Lys1683Asn
ENST00000504541.1:c.292G>T	ENSP00000424845.1:n.292G>T
ENST00000515658.1:c.397G>T
NM_000495.4:c.5049G>T	NP_000486.1:p.Lys1683Asn
NM_033380.2:c.5067G>T	NP_203699.1:p.Lys1689Asn
XM_005262070.2:c.5058G>T	XP_005262127.1:p.Lys1686Asn
XM_006724616.2:c.5067G>T	XP_006724679.1:p.Lys1689Asn
XM_011530849.1:c.4743G>T	XP_011529151.1:p.Lys1581Asn
XM_011530851.1:c.2640G>T	XP_011529153.1:p.Lys880Asn
XM_011530849.2:c.5082G>T	XP_011529151.2:p.Lys1694Asn
XM_017029259.2:c.5073G>T	XP_016884748.1:p.Lys1691Asn
XM_017029260.1:c.5064G>T	XP_016884749.1:p.Lys1688Asn
XM_017029263.2:c.3402G>T	XP_016884752.1:p.Lys1134Asn
NM_000495.5:c.5049G>T	NP_000486.1:p.Lys1683Asn
NM_033380.3:c.5067G>T MANE Select	NP_203699.1:p.Lys1689Asn