Canonical Allele Identifier: CA394303911
Gene: GFER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985901C>A , CM000678.2:g.1985901C>A GRCh38
NC_000016.9:g.2035902C>A , CM000678.1:g.2035902C>A GRCh37
NC_000016.8:g.1975903C>A NCBI36
NG_016288.1:g.6753C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.266C>A ENSP00000455885.1:p.Ala89Glu
ENST00000248114.7:c.491C>A MANE Select ENSP00000248114.6:p.Ala164Glu
ENST00000248114.6:c.491C>A ENSP00000248114.6:p.Ala164Glu
ENST00000565658.1:n.648C>A
ENST00000567719.1:c.266C>A ENSP00000455885.1:p.Ala89Glu
ENST00000569451.1:c.294C>A ENSP00000456432.1:p.Gly98=
NM_005262.2:c.491C>A NP_005253.3:p.Ala164Glu
NM_005262.3:c.491C>A MANE Select NP_005253.3:p.Ala164Glu