Canonical Allele Identifier: CA414132594

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938137T>G (hg19) ; chrX:g.108694907T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694907T>G , CM000685.2:g.108694907T>G	GRCh38
NC_000023.10:g.107938137T>G , CM000685.1:g.107938137T>G	GRCh37
NC_000023.9:g.107824793T>G	NCBI36
NG_011977.1:g.259984T>G
NG_011977.2:g.259984T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4807T>G MANE Select	ENSP00000331902.7:p.Tyr1603Asp
ENST00000361603.7:c.4789T>G	ENSP00000354505.2:p.Tyr1597Asp
ENST00000510690.2:n.1301T>G
ENST00000644079.1:n.1293T>G
ENST00000328300.10:c.4807T>G	ENSP00000331902.6:p.Tyr1603Asp
ENST00000361603.6:c.4789T>G	ENSP00000354505.2:p.Tyr1597Asp
ENST00000504541.1:c.205T>G	ENSP00000424845.1:p.Tyr69Asp
ENST00000515658.1:c.325-1390T>G
NM_000495.4:c.4789T>G	NP_000486.1:p.Tyr1597Asp
NM_033380.2:c.4807T>G	NP_203699.1:p.Tyr1603Asp
XM_005262070.2:c.4798T>G	XP_005262127.1:p.Tyr1600Asp
XM_006724616.2:c.4807T>G	XP_006724679.1:p.Tyr1603Asp
XM_011530849.1:c.4483T>G	XP_011529151.1:p.Tyr1495Asp
XM_011530851.1:c.2380T>G	XP_011529153.1:p.Tyr794Asp
XM_011530849.2:c.4822T>G	XP_011529151.2:p.Tyr1608Asp
XM_017029259.2:c.4813T>G	XP_016884748.1:p.Tyr1605Asp
XM_017029260.1:c.4804T>G	XP_016884749.1:p.Tyr1602Asp
XM_017029263.2:c.3142T>G	XP_016884752.1:p.Tyr1048Asp
NM_000495.5:c.4789T>G	NP_000486.1:p.Tyr1597Asp
NM_033380.3:c.4807T>G MANE Select	NP_203699.1:p.Tyr1603Asp