Canonical Allele Identifier: CA394304615
Gene: GFER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985993T>C , CM000678.2:g.1985993T>C GRCh38
NC_000016.9:g.2035994T>C , CM000678.1:g.2035994T>C GRCh37
NC_000016.8:g.1975995T>C NCBI36
NG_016288.1:g.6845T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.358T>C ENSP00000455885.1:p.Trp120Arg
ENST00000248114.7:c.583T>C MANE Select ENSP00000248114.6:p.Trp195Arg
ENST00000248114.6:c.583T>C ENSP00000248114.6:p.Trp195Arg
ENST00000565658.1:n.740T>C
ENST00000567719.1:c.358T>C ENSP00000455885.1:p.Trp120Arg
ENST00000569451.1:c.*56T>C ENSP00000456432.1:n.*56T>C
NM_005262.2:c.583T>C NP_005253.3:p.Trp195Arg
NM_005262.3:c.583T>C MANE Select NP_005253.3:p.Trp195Arg