Canonical Allele Identifier: CA2580584474

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169165889A>T , CM000663.2:g.169165889A>T GRCh38
NC_000001.10:g.169135127A>T , CM000663.1:g.169135127A>T GRCh37
NC_000001.9:g.167401751A>T NCBI36
NG_051763.1:g.207075T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000688755.1:c.928+11907A>T (ATP1B1) ENSP00000508725.1:n.928+11907A>T
ENST00000367811.8:c.1098+3558T>A (NME7) MANE Select ENSP00000356785.3:n.1098+3558T>A
ENST00000367811.7:c.1098+3558T>A (NME7) ENSP00000356785.3:n.1098+3558T>A
ENST00000472647.5:c.990+3558T>A (NME7) ENSP00000433341.1:n.990+3558T>A
ENST00000493481.1:n.137+3544T>A (NME7)
ENST00000525440.5:c.*141+3558T>A (NME7) ENSP00000431467.1:n.*141+3558T>A
ENST00000530739.5:n.68+24754T>A (NME7)
NM_013330.4:c.1098+3558T>A (NME7) NP_037462.1:n.1098+3558T>A
NM_197972.2:c.990+3558T>A (NME7) NP_932076.1:n.990+3558T>A
NR_104229.1:n.1414+3558T>A (NME7)
XM_005245106.3:c.726+3558T>A (NME7) XP_005245163.1:n.726+3558T>A
NM_013330.5:c.1098+3558T>A (NME7) MANE Select NP_037462.1:n.1098+3558T>A
NM_197972.3:c.990+3558T>A (NME7) NP_932076.1:n.990+3558T>A
NR_104229.2:n.1248+3558T>A (NME7)