Canonical Allele Identifier: CA361564611

Gene: FCHSD1

Linked Data

• MyVariant Identifiers: chr5:g.141027033G>A (hg19) ; chr5:g.141647466G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647466G>A , CM000667.2:g.141647466G>A	GRCh38
NC_000005.9:g.141027033G>A , CM000667.1:g.141027033G>A	GRCh37
NC_000005.8:g.141007217G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.760C>T MANE Select	ENSP00000399259.2:p.His254Tyr
ENST00000435817.6:c.760C>T	ENSP00000399259.2:p.His254Tyr
ENST00000522126.5:c.532C>T	ENSP00000427796.1:p.His178Tyr
ENST00000522386.1:n.366C>T
ENST00000522763.5:n.64C>T
ENST00000522783.5:c.754C>T	ENSP00000428677.1:p.His252Tyr
ENST00000523856.5:n.18C>T
NM_033449.2:c.760C>T	NP_258260.1:p.His254Tyr
XM_005268524.3:c.754C>T	XP_005268581.1:p.His252Tyr
XM_006714803.2:c.631C>T	XP_006714866.1:p.His211Tyr
XM_011537698.1:c.760C>T	XP_011536000.1:p.His254Tyr
XM_011537699.1:c.760C>T	XP_011536001.1:p.His254Tyr
XM_011537700.1:c.760C>T	XP_011536002.1:p.His254Tyr
XM_011537701.1:c.760C>T	XP_011536003.1:p.His254Tyr
XR_427781.2:n.814C>T
XR_944338.1:n.820C>T
XR_944339.1:n.820C>T
XM_005268524.5:c.754C>T	XP_005268581.1:p.His252Tyr
XM_006714803.4:c.631C>T	XP_006714866.1:p.His211Tyr
XM_011537698.3:c.760C>T	XP_011536000.1:p.His254Tyr
XM_011537700.3:c.760C>T	XP_011536002.1:p.His254Tyr
XM_011537701.3:c.760C>T	XP_011536003.1:p.His254Tyr
XM_017010013.2:c.760C>T	XP_016865502.1:p.His254Tyr
XR_002956197.1:n.756C>T
XR_427781.4:n.756C>T
XR_944338.3:n.835C>T
XR_944339.3:n.835C>T
NM_033449.3:c.760C>T MANE Select	NP_258260.1:p.His254Tyr