Canonical Allele Identifier: CA7192381

Gene: GMFB

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54483688T>C , CM000676.2:g.54483688T>C	GRCh38
NC_000014.8:g.54950406T>C , CM000676.1:g.54950406T>C	GRCh37
NC_000014.7:g.54020156T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004124.3:c.83A>G MANE Select	NP_004115.1:p.Asn28Ser
ENST00000358056.8:c.83A>G MANE Select	ENSP00000350757.3:p.Asn28Ser
NM_004124.2:c.83A>G	NP_004115.1:p.Asn28Ser
ENST00000358056.7:c.83A>G	ENSP00000350757.3:p.Asn28Ser
ENST00000553333.1:c.119A>G	ENSP00000451920.1:p.Asn40Ser
ENST00000553566.5:n.260A>G
ENST00000553952.1:n.150A>G
ENST00000554163.5:n.81A>G
ENST00000554247.5:c.83A>G	ENSP00000451473.1:p.Asn28Ser
ENST00000554682.1:n.136A>G
ENST00000554908.5:c.83A>G	ENSP00000452410.1:p.Asn28Ser
ENST00000616146.4:c.83A>G	ENSP00000479543.1:p.Asn28Ser
ENST00000628554.2:c.83A>G	ENSP00000487065.1:p.Asn28Ser
XM_005267541.1:c.83A>G	XP_005267598.1:p.Asn28Ser
XM_011536660.1:c.-17A>G	XP_011534962.1:n.-17A>G