Canonical Allele Identifier: CA414132438

Gene: COL4A5

Linked Data

• gnomAD v4: X-108694835-G-T
• MyVariant Identifiers: chrX:g.107938065G>T (hg19) ; chrX:g.108694835G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694835G>T , CM000685.2:g.108694835G>T	GRCh38
NC_000023.10:g.107938065G>T , CM000685.1:g.107938065G>T	GRCh37
NC_000023.9:g.107824721G>T	NCBI36
NG_011977.1:g.259912G>T
NG_011977.2:g.259912G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4735G>T MANE Select	ENSP00000331902.7:p.Val1579Leu
ENST00000361603.7:c.4717G>T	ENSP00000354505.2:p.Val1573Leu
ENST00000510690.2:n.1229G>T
ENST00000644079.1:n.1221G>T
ENST00000328300.10:c.4735G>T	ENSP00000331902.6:p.Val1579Leu
ENST00000361603.6:c.4717G>T	ENSP00000354505.2:p.Val1573Leu
ENST00000504541.1:c.133G>T	ENSP00000424845.1:p.Val45Leu
ENST00000515658.1:c.325-1462G>T
NM_000495.4:c.4717G>T	NP_000486.1:p.Val1573Leu
NM_033380.2:c.4735G>T	NP_203699.1:p.Val1579Leu
XM_005262070.2:c.4726G>T	XP_005262127.1:p.Val1576Leu
XM_006724616.2:c.4735G>T	XP_006724679.1:p.Val1579Leu
XM_011530849.1:c.4411G>T	XP_011529151.1:p.Val1471Leu
XM_011530851.1:c.2308G>T	XP_011529153.1:p.Val770Leu
XM_011530849.2:c.4750G>T	XP_011529151.2:p.Val1584Leu
XM_017029259.2:c.4741G>T	XP_016884748.1:p.Val1581Leu
XM_017029260.1:c.4732G>T	XP_016884749.1:p.Val1578Leu
XM_017029263.2:c.3070G>T	XP_016884752.1:p.Val1024Leu
NM_000495.5:c.4717G>T	NP_000486.1:p.Val1573Leu
NM_033380.3:c.4735G>T MANE Select	NP_203699.1:p.Val1579Leu