Canonical Allele Identifier: CA1162795
Gene: NAXE HGNC NCBI

Linked Data

ClinVar Variation Id: 268118
ClinVar RCV Id: RCV000258842
dbSNP Id: rs139093330

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156592671G>A , CM000663.2:g.156592671G>A GRCh38
NC_000001.10:g.156562463G>A , CM000663.1:g.156562463G>A GRCh37
NC_000001.9:g.154829087G>A NCBI36
NG_052542.1:g.5906G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000368235.8:c.516+1G>A MANE Select ENSP00000357218.3:n.516+1G>A
ENST00000467374.2:n.627G>A
ENST00000679369.1:c.405+1G>A ENSP00000505883.1:n.405+1G>A
ENST00000679649.1:n.555+1G>A
ENST00000679702.1:c.516+1G>A ENSP00000505913.1:n.516+1G>A
ENST00000679913.1:n.720+1G>A
ENST00000680004.1:c.516+1G>A ENSP00000506275.1:n.516+1G>A
ENST00000680087.1:c.516+1G>A ENSP00000505907.1:n.516+1G>A
ENST00000680269.1:c.516+1G>A ENSP00000505899.1:n.516+1G>A
ENST00000680529.1:n.700+1G>A
ENST00000680661.1:c.516+1G>A ENSP00000505088.1:n.516+1G>A
ENST00000681054.1:c.516+1G>A ENSP00000506192.1:n.516+1G>A
ENST00000681523.1:c.516+1G>A ENSP00000505349.1:n.516+1G>A
ENST00000681645.1:n.555+1G>A
ENST00000681734.1:c.516+1G>A ENSP00000506177.1:n.516+1G>A
ENST00000681825.1:n.321G>A
ENST00000681922.1:n.556G>A
ENST00000368233.3:c.516+1G>A ENSP00000357216.3:n.516+1G>A
ENST00000368234.7:c.516+1G>A ENSP00000357217.3:n.516+1G>A
ENST00000368235.7:c.516+1G>A ENSP00000357218.3:n.516+1G>A
ENST00000467374.1:n.426G>A
NM_144772.2:c.516+1G>A NP_658985.2:n.516+1G>A
XM_017000319.2:c.516+1G>A XP_016855808.1:n.516+1G>A
NM_144772.3:c.516+1G>A MANE Select NP_658985.2:n.516+1G>A