Canonical Allele Identifier: CA7192391

Gene: GMFB

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54483733T>A , CM000676.2:g.54483733T>A	GRCh38
NC_000014.8:g.54950451T>A , CM000676.1:g.54950451T>A	GRCh37
NC_000014.7:g.54020201T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004124.3:c.38A>T MANE Select	NP_004115.1:p.Asp13Val
ENST00000358056.8:c.38A>T MANE Select	ENSP00000350757.3:p.Asp13Val
NM_004124.2:c.38A>T	NP_004115.1:p.Asp13Val
ENST00000358056.7:c.38A>T	ENSP00000350757.3:p.Asp13Val
ENST00000553333.1:c.74A>T	ENSP00000451920.1:p.Asp25Val
ENST00000553566.5:n.215A>T
ENST00000553952.1:n.105A>T
ENST00000554163.5:n.36A>T
ENST00000554247.5:c.38A>T	ENSP00000451473.1:p.Asp13Val
ENST00000554682.1:n.91A>T
ENST00000554908.5:c.38A>T	ENSP00000452410.1:p.Asp13Val
ENST00000616146.4:c.38A>T	ENSP00000479543.1:p.Asp13Val
ENST00000628554.2:c.38A>T	ENSP00000487065.1:p.Asp13Val
XM_005267541.1:c.38A>T	XP_005267598.1:p.Asp13Val
XM_011536660.1:c.-62A>T	XP_011534962.1:n.-62A>T