Canonical Allele Identifier: CA394303791
Gene: GFER HGNC NCBI

Linked Data

dbSNP Id: rs1597063997

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985887C>A , CM000678.2:g.1985887C>A GRCh38
NC_000016.9:g.2035888C>A , CM000678.1:g.2035888C>A GRCh37
NC_000016.8:g.1975889C>A NCBI36
NG_016288.1:g.6739C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.252C>A ENSP00000455885.1:p.Asp84Glu
ENST00000248114.7:c.477C>A MANE Select ENSP00000248114.6:p.Asp159Glu
ENST00000248114.6:c.477C>A ENSP00000248114.6:p.Asp159Glu
ENST00000565658.1:n.634C>A
ENST00000567719.1:c.252C>A ENSP00000455885.1:p.Asp84Glu
ENST00000569451.1:c.280C>A ENSP00000456432.1:p.His94Asn
NM_005262.2:c.477C>A NP_005253.3:p.Asp159Glu
NM_005262.3:c.477C>A MANE Select NP_005253.3:p.Asp159Glu