Canonical Allele Identifier: CA375046355

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303399G>C (hg19) ; chr9:g.128541120G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541120G>C , CM000671.2:g.128541120G>C	GRCh38
NC_000009.11:g.131303399G>C , CM000671.1:g.131303399G>C	GRCh37
NC_000009.10:g.130343220G>C	NCBI36
NG_012073.1:g.41429G>C , LRG_484:g.41429G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1118G>C	ENSP00000507095.1:n.*1118G>C
ENST00000683288.1:c.*2046G>C	ENSP00000507477.1:n.*2046G>C
ENST00000683748.1:c.2074G>C	ENSP00000507377.1:p.Asp692His
ENST00000683905.1:c.*723G>C	ENSP00000506960.1:n.*723G>C
ENST00000684139.1:c.1582G>C	ENSP00000507295.1:p.Asp528His
ENST00000684210.1:n.1760G>C
ENST00000684314.1:c.1942G>C	ENSP00000507700.1:p.Asp648His
ENST00000684331.1:c.*767G>C	ENSP00000507431.1:n.*767G>C
ENST00000684463.1:n.685G>C
ENST00000684646.1:c.1834G>C	ENSP00000507723.1:p.Asp612His
ENST00000309971.9:c.2047G>C MANE Select	ENSP00000308622.5:p.Asp683His
ENST00000309971.8:c.2047G>C	ENSP00000308622.4:p.Asp683His
NM_001003722.1:c.2047G>C , LRG_484t1:c.2047G>C	NP_001003722.1:p.Asp683His
XM_006717059.2:c.2083G>C	XP_006717122.1:p.Asp695His
XM_006717060.2:c.2056G>C	XP_006717123.1:p.Asp686His
XM_011518549.1:c.2083G>C	XP_011516851.1:p.Asp695His
XM_011518550.1:c.2083G>C	XP_011516852.1:p.Asp695His
XM_011518551.1:c.2074G>C	XP_011516853.1:p.Asp692His
XM_011518552.1:c.1324G>C	XP_011516854.1:p.Asp442His
XR_242681.3:n.100+2259C>G
XM_006717059.3:c.2083G>C	XP_006717122.1:p.Asp695His
XM_006717060.3:c.2056G>C	XP_006717123.1:p.Asp686His
XM_011518551.2:c.2074G>C	XP_011516853.1:p.Asp692His
XM_024447519.1:c.2056G>C	XP_024303287.1:p.Asp686His
NM_001003722.2:c.2047G>C MANE Select	NP_001003722.1:p.Asp683His