Canonical Allele Identifier: CA342873733

Gene: NAXE

Linked Data

• dbSNP Id: rs149086062
• gnomAD v3: 1-156592627-G-T
• gnomAD v4: 1-156592627-G-T
• MyVariant Identifiers: chr1:g.156562419G>T (hg19) ; chr1:g.156592627G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156592627G>T , CM000663.2:g.156592627G>T	GRCh38
NC_000001.10:g.156562419G>T , CM000663.1:g.156562419G>T	GRCh37
NC_000001.9:g.154829043G>T	NCBI36
NG_052542.1:g.5862G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368235.8:c.473G>T MANE Select	ENSP00000357218.3:p.Cys158Phe
ENST00000467374.2:n.583G>T
ENST00000679369.1:c.362G>T	ENSP00000505883.1:p.Cys121Phe
ENST00000679649.1:n.512G>T
ENST00000679702.1:c.473G>T	ENSP00000505913.1:p.Cys158Phe
ENST00000679913.1:n.677G>T
ENST00000680004.1:c.473G>T	ENSP00000506275.1:p.Cys158Phe
ENST00000680087.1:c.473G>T	ENSP00000505907.1:p.Cys158Phe
ENST00000680269.1:c.473G>T	ENSP00000505899.1:p.Cys158Phe
ENST00000680529.1:n.657G>T
ENST00000680661.1:c.473G>T	ENSP00000505088.1:p.Cys158Phe
ENST00000681054.1:c.473G>T	ENSP00000506192.1:p.Cys158Phe
ENST00000681523.1:c.473G>T	ENSP00000505349.1:p.Cys158Phe
ENST00000681645.1:n.512G>T
ENST00000681734.1:c.473G>T	ENSP00000506177.1:p.Cys158Phe
ENST00000681825.1:n.277G>T
ENST00000681922.1:n.512G>T
ENST00000368233.3:c.473G>T	ENSP00000357216.3:p.Cys158Phe
ENST00000368234.7:c.473G>T	ENSP00000357217.3:p.Cys158Phe
ENST00000368235.7:c.473G>T	ENSP00000357218.3:p.Cys158Phe
ENST00000467374.1:n.382G>T
NM_144772.2:c.473G>T	NP_658985.2:p.Cys158Phe
XM_017000319.2:c.473G>T	XP_016855808.1:p.Cys158Phe
NM_144772.3:c.473G>T MANE Select	NP_658985.2:p.Cys158Phe