Canonical Allele Identifier: CA1162949
Gene: NAXE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156594106T>C , CM000663.2:g.156594106T>C GRCh38
NC_000001.10:g.156563898T>C , CM000663.1:g.156563898T>C GRCh37
NC_000001.9:g.154830522T>C NCBI36
NG_052542.1:g.7341T>C

Transcript Alleles

HGVS Amino-acid Change
NM_144772.3:c.*22T>C MANE Select NP_658985.2:n.*22T>C
ENST00000368235.8:c.*22T>C MANE Select ENSP00000357218.3:n.*22T>C
NM_144772.2:c.*22T>C NP_658985.2:n.*22T>C
ENST00000368234.7:c.*50T>C ENSP00000357217.3:n.*50T>C
ENST00000368235.7:c.*22T>C ENSP00000357218.3:n.*22T>C
ENST00000467374.2:n.2062T>C
ENST00000488840.1:n.506T>C
ENST00000679369.1:c.553+551T>C ENSP00000505883.1:n.553+551T>C
ENST00000679649.1:n.928T>C
ENST00000679702.1:c.*6+16T>C ENSP00000505913.1:n.*6+16T>C
ENST00000679913.1:n.1077+16T>C
ENST00000680004.1:c.*6+16T>C ENSP00000506275.1:n.*6+16T>C
ENST00000680087.1:c.664+551T>C ENSP00000505907.1:n.664+551T>C
ENST00000680269.1:c.*6+16T>C ENSP00000505899.1:n.*6+16T>C
ENST00000680529.1:n.1073T>C
ENST00000680661.1:c.664+551T>C ENSP00000505088.1:n.664+551T>C
ENST00000681054.1:c.*6+16T>C ENSP00000506192.1:n.*6+16T>C
ENST00000681523.1:c.*6+16T>C ENSP00000505349.1:n.*6+16T>C
ENST00000681645.1:n.1254T>C
ENST00000681734.1:c.*6+16T>C ENSP00000506177.1:n.*6+16T>C
ENST00000681825.1:n.1414+16T>C
ENST00000681922.1:n.1649+16T>C
XM_017000319.2:c.681+534T>C XP_016855808.1:n.681+534T>C