Canonical Allele Identifier: CA394304221
Gene: GFER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985943A>T , CM000678.2:g.1985943A>T GRCh38
NC_000016.9:g.2035944A>T , CM000678.1:g.2035944A>T GRCh37
NC_000016.8:g.1975945A>T NCBI36
NG_016288.1:g.6795A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.308A>T ENSP00000455885.1:p.Asn103Ile
ENST00000248114.7:c.533A>T MANE Select ENSP00000248114.6:p.Asn178Ile
ENST00000248114.6:c.533A>T ENSP00000248114.6:p.Asn178Ile
ENST00000565658.1:n.690A>T
ENST00000567719.1:c.308A>T ENSP00000455885.1:p.Asn103Ile
ENST00000569451.1:c.*6A>T ENSP00000456432.1:n.*6A>T
NM_005262.2:c.533A>T NP_005253.3:p.Asn178Ile
NM_005262.3:c.533A>T MANE Select NP_005253.3:p.Asn178Ile