Canonical Allele Identifier: CA517924542
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107930788T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687558T>G , CM000685.2:g.108687558T>G GRCh38
NC_000023.10:g.107930788T>G , CM000685.1:g.107930788T>G GRCh37
NC_000023.9:g.107817444T>G NCBI36
NG_011977.1:g.252635T>G
NG_011977.2:g.252635T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4392T>G MANE Select ENSP00000331902.7:p.Val1464=
ENST00000361603.7:c.4374T>G ENSP00000354505.2:p.Val1458=
ENST00000510690.2:n.886T>G
ENST00000328300.10:c.4392T>G ENSP00000331902.6:p.Val1464=
ENST00000361603.6:c.4374T>G ENSP00000354505.2:p.Val1458=
ENST00000515658.1:c.188T>G
NM_000495.4:c.4374T>G NP_000486.1:p.Val1458=
NM_033380.2:c.4392T>G NP_203699.1:p.Val1464=
XM_005262070.2:c.4383T>G XP_005262127.1:p.Val1461=
XM_006724616.2:c.4392T>G XP_006724679.1:p.Val1464=
XM_011530849.1:c.4068T>G XP_011529151.1:p.Val1356=
XM_011530851.1:c.1965T>G XP_011529153.1:p.Val655=
XM_011530849.2:c.4407T>G XP_011529151.2:p.Val1469=
XM_017029259.2:c.4398T>G XP_016884748.1:p.Val1466=
XM_017029260.1:c.4389T>G XP_016884749.1:p.Val1463=
XM_017029263.2:c.2727T>G XP_016884752.1:p.Val909=
NM_000495.5:c.4374T>G NP_000486.1:p.Val1458=
NM_033380.3:c.4392T>G MANE Select NP_203699.1:p.Val1464=