Canonical Allele Identifier: CA517926128
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107938601T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695371T>G , CM000685.2:g.108695371T>G GRCh38
NC_000023.10:g.107938601T>G , CM000685.1:g.107938601T>G GRCh37
NC_000023.9:g.107825257T>G NCBI36
NG_011977.1:g.260448T>G
NG_011977.2:g.260448T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4926T>G MANE Select ENSP00000331902.7:p.Gly1642=
ENST00000361603.7:c.4908T>G ENSP00000354505.2:p.Gly1636=
ENST00000510690.2:n.1420T>G
ENST00000644079.1:n.1757T>G
ENST00000328300.10:c.4926T>G ENSP00000331902.6:p.Gly1642=
ENST00000361603.6:c.4908T>G ENSP00000354505.2:p.Gly1636=
ENST00000504541.1:c.219+450T>G ENSP00000424845.1:n.219+450T>G
ENST00000515658.1:c.325-926T>G
NM_000495.4:c.4908T>G NP_000486.1:p.Gly1636=
NM_033380.2:c.4926T>G NP_203699.1:p.Gly1642=
XM_005262070.2:c.4917T>G XP_005262127.1:p.Gly1639=
XM_006724616.2:c.4926T>G XP_006724679.1:p.Gly1642=
XM_011530849.1:c.4602T>G XP_011529151.1:p.Gly1534=
XM_011530851.1:c.2499T>G XP_011529153.1:p.Gly833=
XM_011530849.2:c.4941T>G XP_011529151.2:p.Gly1647=
XM_017029259.2:c.4932T>G XP_016884748.1:p.Gly1644=
XM_017029260.1:c.4923T>G XP_016884749.1:p.Gly1641=
XM_017029263.2:c.3261T>G XP_016884752.1:p.Gly1087=
NM_000495.5:c.4908T>G NP_000486.1:p.Gly1636=
NM_033380.3:c.4926T>G MANE Select NP_203699.1:p.Gly1642=