Canonical Allele Identifier: CA15074628
Community Standard Title: NM_144772.3(NAXE):c.*116C>G
Gene: NAXE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156594200C>G , CM000663.2:g.156594200C>G GRCh38
NC_000001.10:g.156563992C>G , CM000663.1:g.156563992C>G GRCh37
NC_000001.9:g.154830616C>G NCBI36
NG_052542.1:g.7435C>G

Transcript Alleles

HGVS Amino-acid Change
NM_144772.3:c.*116C>G MANE Select NP_658985.2:n.*116C>G
ENST00000368235.8:c.*116C>G MANE Select ENSP00000357218.3:n.*116C>G
NM_144772.2:c.*116C>G NP_658985.2:n.*116C>G
ENST00000368235.7:c.*116C>G ENSP00000357218.3:n.*116C>G
ENST00000467374.2:n.2156C>G
ENST00000679369.1:c.553+645C>G ENSP00000505883.1:n.553+645C>G
ENST00000679649.1:n.1022C>G
ENST00000679702.1:c.*6+110C>G ENSP00000505913.1:n.*6+110C>G
ENST00000679913.1:n.1077+110C>G
ENST00000680004.1:c.*6+110C>G ENSP00000506275.1:n.*6+110C>G
ENST00000680087.1:c.664+645C>G ENSP00000505907.1:n.664+645C>G
ENST00000680269.1:c.*6+110C>G ENSP00000505899.1:n.*6+110C>G
ENST00000680529.1:n.1167C>G
ENST00000680661.1:c.664+645C>G ENSP00000505088.1:n.664+645C>G
ENST00000681054.1:c.*6+110C>G ENSP00000506192.1:n.*6+110C>G
ENST00000681523.1:c.*6+110C>G ENSP00000505349.1:n.*6+110C>G
ENST00000681645.1:n.1348C>G
ENST00000681734.1:c.*6+110C>G ENSP00000506177.1:n.*6+110C>G
ENST00000681825.1:n.1414+110C>G
ENST00000681922.1:n.1649+110C>G
XM_017000319.2:c.681+628C>G XP_016855808.1:n.681+628C>G