Canonical Allele Identifier: CA517925712
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107938082T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694852T>C , CM000685.2:g.108694852T>C GRCh38
NC_000023.10:g.107938082T>C , CM000685.1:g.107938082T>C GRCh37
NC_000023.9:g.107824738T>C NCBI36
NG_011977.1:g.259929T>C
NG_011977.2:g.259929T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4752T>C MANE Select ENSP00000331902.7:p.Ser1584=
ENST00000361603.7:c.4734T>C ENSP00000354505.2:p.Ser1578=
ENST00000510690.2:n.1246T>C
ENST00000644079.1:n.1238T>C
ENST00000328300.10:c.4752T>C ENSP00000331902.6:p.Ser1584=
ENST00000361603.6:c.4734T>C ENSP00000354505.2:p.Ser1578=
ENST00000504541.1:c.150T>C ENSP00000424845.1:p.Ser50=
ENST00000515658.1:c.325-1445T>C
NM_000495.4:c.4734T>C NP_000486.1:p.Ser1578=
NM_033380.2:c.4752T>C NP_203699.1:p.Ser1584=
XM_005262070.2:c.4743T>C XP_005262127.1:p.Ser1581=
XM_006724616.2:c.4752T>C XP_006724679.1:p.Ser1584=
XM_011530849.1:c.4428T>C XP_011529151.1:p.Ser1476=
XM_011530851.1:c.2325T>C XP_011529153.1:p.Ser775=
XM_011530849.2:c.4767T>C XP_011529151.2:p.Ser1589=
XM_017029259.2:c.4758T>C XP_016884748.1:p.Ser1586=
XM_017029260.1:c.4749T>C XP_016884749.1:p.Ser1583=
XM_017029263.2:c.3087T>C XP_016884752.1:p.Ser1029=
NM_000495.5:c.4734T>C NP_000486.1:p.Ser1578=
NM_033380.3:c.4752T>C MANE Select NP_203699.1:p.Ser1584=