Canonical Allele Identifier: CA414132570

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938125C>G (hg19) ; chrX:g.108694895C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694895C>G , CM000685.2:g.108694895C>G	GRCh38
NC_000023.10:g.107938125C>G , CM000685.1:g.107938125C>G	GRCh37
NC_000023.9:g.107824781C>G	NCBI36
NG_011977.1:g.259972C>G
NG_011977.2:g.259972C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4795C>G MANE Select	ENSP00000331902.7:p.Leu1599Val
ENST00000361603.7:c.4777C>G	ENSP00000354505.2:p.Leu1593Val
ENST00000510690.2:n.1289C>G
ENST00000644079.1:n.1281C>G
ENST00000328300.10:c.4795C>G	ENSP00000331902.6:p.Leu1599Val
ENST00000361603.6:c.4777C>G	ENSP00000354505.2:p.Leu1593Val
ENST00000504541.1:c.193C>G	ENSP00000424845.1:p.Leu65Val
ENST00000515658.1:c.325-1402C>G
NM_000495.4:c.4777C>G	NP_000486.1:p.Leu1593Val
NM_033380.2:c.4795C>G	NP_203699.1:p.Leu1599Val
XM_005262070.2:c.4786C>G	XP_005262127.1:p.Leu1596Val
XM_006724616.2:c.4795C>G	XP_006724679.1:p.Leu1599Val
XM_011530849.1:c.4471C>G	XP_011529151.1:p.Leu1491Val
XM_011530851.1:c.2368C>G	XP_011529153.1:p.Leu790Val
XM_011530849.2:c.4810C>G	XP_011529151.2:p.Leu1604Val
XM_017029259.2:c.4801C>G	XP_016884748.1:p.Leu1601Val
XM_017029260.1:c.4792C>G	XP_016884749.1:p.Leu1598Val
XM_017029263.2:c.3130C>G	XP_016884752.1:p.Leu1044Val
NM_000495.5:c.4777C>G	NP_000486.1:p.Leu1593Val
NM_033380.3:c.4795C>G MANE Select	NP_203699.1:p.Leu1599Val