Canonical Allele Identifier: CA413854546

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930858C>A (hg19) ; chrX:g.108687628C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687628C>A , CM000685.2:g.108687628C>A	GRCh38
NC_000023.10:g.107930858C>A , CM000685.1:g.107930858C>A	GRCh37
NC_000023.9:g.107817514C>A	NCBI36
NG_011977.1:g.252705C>A
NG_011977.2:g.252705C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4462C>A MANE Select	ENSP00000331902.7:p.Gln1488Lys
ENST00000361603.7:c.4444C>A	ENSP00000354505.2:p.Gln1482Lys
ENST00000510690.2:n.956C>A
ENST00000328300.10:c.4462C>A	ENSP00000331902.6:p.Gln1488Lys
ENST00000361603.6:c.4444C>A	ENSP00000354505.2:p.Gln1482Lys
ENST00000515658.1:c.258C>A
NM_000495.4:c.4444C>A	NP_000486.1:p.Gln1482Lys
NM_033380.2:c.4462C>A	NP_203699.1:p.Gln1488Lys
XM_005262070.2:c.4453C>A	XP_005262127.1:p.Gln1485Lys
XM_006724616.2:c.4462C>A	XP_006724679.1:p.Gln1488Lys
XM_011530849.1:c.4138C>A	XP_011529151.1:p.Gln1380Lys
XM_011530851.1:c.2035C>A	XP_011529153.1:p.Gln679Lys
XM_011530849.2:c.4477C>A	XP_011529151.2:p.Gln1493Lys
XM_017029259.2:c.4468C>A	XP_016884748.1:p.Gln1490Lys
XM_017029260.1:c.4459C>A	XP_016884749.1:p.Gln1487Lys
XM_017029263.2:c.2797C>A	XP_016884752.1:p.Gln933Lys
NM_000495.5:c.4444C>A	NP_000486.1:p.Gln1482Lys
NM_033380.3:c.4462C>A MANE Select	NP_203699.1:p.Gln1488Lys