Canonical Allele Identifier: CA2201967853
Gene: GFER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1986006G= , CM000678.2:g.1986006G= GRCh38
NC_000016.9:g.2036007G= , CM000678.1:g.2036007G= GRCh37
NC_000016.8:g.1976008G= NCBI36
NG_016288.1:g.6858G=

Transcript Alleles

HGVS Amino-acid change
ENST00000567719.2:c.371G= ENSP00000455885.1:p.Trp124=
ENST00000248114.7:c.596G= MANE Select ENSP00000248114.6:p.Trp199=
ENST00000248114.6:c.596G= ENSP00000248114.6:p.Trp199=
ENST00000565658.1:n.753G=
ENST00000567719.1:c.371G= ENSP00000455885.1:p.Trp124=
ENST00000569451.1:c.*69G= ENSP00000456432.1:n.*69G=
NM_005262.2:c.596G= NP_005253.3:p.Trp199=
NM_005262.3:c.596G= MANE Select NP_005253.3:p.Trp199=