Canonical Allele Identifier: CA394304560
Gene: GFER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985985A>T , CM000678.2:g.1985985A>T GRCh38
NC_000016.9:g.2035986A>T , CM000678.1:g.2035986A>T GRCh37
NC_000016.8:g.1975987A>T NCBI36
NG_016288.1:g.6837A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.350A>T ENSP00000455885.1:p.Asp117Val
ENST00000248114.7:c.575A>T MANE Select ENSP00000248114.6:p.Asp192Val
ENST00000248114.6:c.575A>T ENSP00000248114.6:p.Asp192Val
ENST00000565658.1:n.732A>T
ENST00000567719.1:c.350A>T ENSP00000455885.1:p.Asp117Val
ENST00000569451.1:c.*48A>T ENSP00000456432.1:n.*48A>T
NM_005262.2:c.575A>T NP_005253.3:p.Asp192Val
NM_005262.3:c.575A>T MANE Select NP_005253.3:p.Asp192Val