Canonical Allele Identifier: CA413852293

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107925076C>G (hg19) ; chrX:g.108681846C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681846C>G , CM000685.2:g.108681846C>G	GRCh38
NC_000023.10:g.107925076C>G , CM000685.1:g.107925076C>G	GRCh37
NC_000023.9:g.107811732C>G	NCBI36
NG_011977.1:g.246923C>G
NG_011977.2:g.246923C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4174C>G MANE Select	ENSP00000331902.7:p.Leu1392Val
ENST00000361603.7:c.4156C>G	ENSP00000354505.2:p.Leu1386Val
ENST00000510690.2:n.668C>G
ENST00000328300.10:c.4174C>G	ENSP00000331902.6:p.Leu1392Val
ENST00000361603.6:c.4156C>G	ENSP00000354505.2:p.Leu1386Val
ENST00000489230.1:n.577C>G
NM_000495.4:c.4156C>G	NP_000486.1:p.Leu1386Val
NM_033380.2:c.4174C>G	NP_203699.1:p.Leu1392Val
XM_005262070.2:c.4165C>G	XP_005262127.1:p.Leu1389Val
XM_006724616.2:c.4174C>G	XP_006724679.1:p.Leu1392Val
XM_011530849.1:c.3850C>G	XP_011529151.1:p.Leu1284Val
XM_011530851.1:c.1747C>G	XP_011529153.1:p.Leu583Val
XM_011530849.2:c.4189C>G	XP_011529151.2:p.Leu1397Val
XM_017029259.2:c.4180C>G	XP_016884748.1:p.Leu1394Val
XM_017029260.1:c.4171C>G	XP_016884749.1:p.Leu1391Val
XM_017029263.2:c.2509C>G	XP_016884752.1:p.Leu837Val
NM_000495.5:c.4156C>G	NP_000486.1:p.Leu1386Val
NM_033380.3:c.4174C>G MANE Select	NP_203699.1:p.Leu1392Val