Canonical Allele Identifier: CA2201967743

Gene: GFER

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985926C= , CM000678.2:g.1985926C=	GRCh38
NC_000016.9:g.2035927C= , CM000678.1:g.2035927C=	GRCh37
NC_000016.8:g.1975928C=	NCBI36
NG_016288.1:g.6778C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.291C=	ENSP00000455885.1:p.His97=
ENST00000248114.7:c.516C= MANE Select	ENSP00000248114.6:p.His172=
ENST00000248114.6:c.516C=	ENSP00000248114.6:p.His172=
ENST00000565658.1:n.673C=
ENST00000567719.1:c.291C=	ENSP00000455885.1:p.His97=
ENST00000569451.1:c.319C=	ENSP00000456432.1:p.Pro107=
NM_005262.2:c.516C=	NP_005253.3:p.His172=
NM_005262.3:c.516C= MANE Select	NP_005253.3:p.His172=