Canonical Allele Identifier: CA413852239

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107925068A>T (hg19) ; chrX:g.108681838A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681838A>T , CM000685.2:g.108681838A>T	GRCh38
NC_000023.10:g.107925068A>T , CM000685.1:g.107925068A>T	GRCh37
NC_000023.9:g.107811724A>T	NCBI36
NG_011977.1:g.246915A>T
NG_011977.2:g.246915A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4166A>T MANE Select	ENSP00000331902.7:p.Gln1389Leu
ENST00000361603.7:c.4148A>T	ENSP00000354505.2:p.Gln1383Leu
ENST00000510690.2:n.660A>T
ENST00000328300.10:c.4166A>T	ENSP00000331902.6:p.Gln1389Leu
ENST00000361603.6:c.4148A>T	ENSP00000354505.2:p.Gln1383Leu
ENST00000489230.1:n.569A>T
NM_000495.4:c.4148A>T	NP_000486.1:p.Gln1383Leu
NM_033380.2:c.4166A>T	NP_203699.1:p.Gln1389Leu
XM_005262070.2:c.4157A>T	XP_005262127.1:p.Gln1386Leu
XM_006724616.2:c.4166A>T	XP_006724679.1:p.Gln1389Leu
XM_011530849.1:c.3842A>T	XP_011529151.1:p.Gln1281Leu
XM_011530851.1:c.1739A>T	XP_011529153.1:p.Gln580Leu
XM_011530849.2:c.4181A>T	XP_011529151.2:p.Gln1394Leu
XM_017029259.2:c.4172A>T	XP_016884748.1:p.Gln1391Leu
XM_017029260.1:c.4163A>T	XP_016884749.1:p.Gln1388Leu
XM_017029263.2:c.2501A>T	XP_016884752.1:p.Gln834Leu
NM_000495.5:c.4148A>T	NP_000486.1:p.Gln1383Leu
NM_033380.3:c.4166A>T MANE Select	NP_203699.1:p.Gln1389Leu