Canonical Allele Identifier: CA394304151
Gene: GFER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985935T>A , CM000678.2:g.1985935T>A GRCh38
NC_000016.9:g.2035936T>A , CM000678.1:g.2035936T>A GRCh37
NC_000016.8:g.1975937T>A NCBI36
NG_016288.1:g.6787T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.300T>A ENSP00000455885.1:p.Asn100Lys
ENST00000248114.7:c.525T>A MANE Select ENSP00000248114.6:p.Asn175Lys
ENST00000248114.6:c.525T>A ENSP00000248114.6:p.Asn175Lys
ENST00000565658.1:n.682T>A
ENST00000567719.1:c.300T>A ENSP00000455885.1:p.Asn100Lys
ENST00000569451.1:c.328T>A ENSP00000456432.1:p.Ter110Arg
NM_005262.2:c.525T>A NP_005253.3:p.Asn175Lys
NM_005262.3:c.525T>A MANE Select NP_005253.3:p.Asn175Lys