Canonical Allele Identifier: CA446897325
Gene: FCHSD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.141027028A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141647461A>T , CM000667.2:g.141647461A>T GRCh38
NC_000005.9:g.141027028A>T , CM000667.1:g.141027028A>T GRCh37
NC_000005.8:g.141007212A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000435817.7:c.765T>A MANE Select ENSP00000399259.2:p.Thr255=
ENST00000435817.6:c.765T>A ENSP00000399259.2:p.Thr255=
ENST00000522126.5:c.537T>A ENSP00000427796.1:p.Thr179=
ENST00000522386.1:n.371T>A
ENST00000522763.5:n.69T>A
ENST00000522783.5:c.759T>A ENSP00000428677.1:p.Thr253=
ENST00000523856.5:n.23T>A
NM_033449.2:c.765T>A NP_258260.1:p.Thr255=
XM_005268524.3:c.759T>A XP_005268581.1:p.Thr253=
XM_006714803.2:c.636T>A XP_006714866.1:p.Thr212=
XM_011537698.1:c.765T>A XP_011536000.1:p.Thr255=
XM_011537699.1:c.765T>A XP_011536001.1:p.Thr255=
XM_011537700.1:c.765T>A XP_011536002.1:p.Thr255=
XM_011537701.1:c.765T>A XP_011536003.1:p.Thr255=
XR_427781.2:n.819T>A
XR_944338.1:n.825T>A
XR_944339.1:n.825T>A
XM_005268524.5:c.759T>A XP_005268581.1:p.Thr253=
XM_006714803.4:c.636T>A XP_006714866.1:p.Thr212=
XM_011537698.3:c.765T>A XP_011536000.1:p.Thr255=
XM_011537700.3:c.765T>A XP_011536002.1:p.Thr255=
XM_011537701.3:c.765T>A XP_011536003.1:p.Thr255=
XM_017010013.2:c.765T>A XP_016865502.1:p.Thr255=
XR_002956197.1:n.761T>A
XR_427781.4:n.761T>A
XR_944338.3:n.840T>A
XR_944339.3:n.840T>A
NM_033449.3:c.765T>A MANE Select NP_258260.1:p.Thr255=