Canonical Allele Identifier: CA517926155
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107938646T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695416T>G , CM000685.2:g.108695416T>G GRCh38
NC_000023.10:g.107938646T>G , CM000685.1:g.107938646T>G GRCh37
NC_000023.9:g.107825302T>G NCBI36
NG_011977.1:g.260493T>G
NG_011977.2:g.260493T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4971T>G MANE Select ENSP00000331902.7:p.Thr1657=
ENST00000361603.7:c.4953T>G ENSP00000354505.2:p.Thr1651=
ENST00000510690.2:n.1465T>G
ENST00000644079.1:n.1802T>G
ENST00000328300.10:c.4971T>G ENSP00000331902.6:p.Thr1657=
ENST00000361603.6:c.4953T>G ENSP00000354505.2:p.Thr1651=
ENST00000504541.1:c.219+495T>G ENSP00000424845.1:n.219+495T>G
ENST00000515658.1:c.325-881T>G
NM_000495.4:c.4953T>G NP_000486.1:p.Thr1651=
NM_033380.2:c.4971T>G NP_203699.1:p.Thr1657=
XM_005262070.2:c.4962T>G XP_005262127.1:p.Thr1654=
XM_006724616.2:c.4971T>G XP_006724679.1:p.Thr1657=
XM_011530849.1:c.4647T>G XP_011529151.1:p.Thr1549=
XM_011530851.1:c.2544T>G XP_011529153.1:p.Thr848=
XM_011530849.2:c.4986T>G XP_011529151.2:p.Thr1662=
XM_017029259.2:c.4977T>G XP_016884748.1:p.Thr1659=
XM_017029260.1:c.4968T>G XP_016884749.1:p.Thr1656=
XM_017029263.2:c.3306T>G XP_016884752.1:p.Thr1102=
NM_000495.5:c.4953T>G NP_000486.1:p.Thr1651=
NM_033380.3:c.4971T>G MANE Select NP_203699.1:p.Thr1657=