Canonical Allele Identifier: CA1162786

Gene: NAXE

Linked Data

• dbSNP Id: rs545174984
• ExAC: 1:156562432 C / T
• gnomAD v2: 1-156562432-C-T
• gnomAD v3: 1-156592640-C-T
• gnomAD v4: 1-156592640-C-T
• MyVariant Identifiers: chr1:g.156562432C>T (hg19) ; chr1:g.156592640C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156592640C>T , CM000663.2:g.156592640C>T	GRCh38
NC_000001.10:g.156562432C>T , CM000663.1:g.156562432C>T	GRCh37
NC_000001.9:g.154829056C>T	NCBI36
NG_052542.1:g.5875C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368235.8:c.486C>T MANE Select	ENSP00000357218.3:p.Asp162=
ENST00000467374.2:n.596C>T
ENST00000679369.1:c.375C>T	ENSP00000505883.1:p.Asp125=
ENST00000679649.1:n.525C>T
ENST00000679702.1:c.486C>T	ENSP00000505913.1:p.Asp162=
ENST00000679913.1:n.690C>T
ENST00000680004.1:c.486C>T	ENSP00000506275.1:p.Asp162=
ENST00000680087.1:c.486C>T	ENSP00000505907.1:p.Asp162=
ENST00000680269.1:c.486C>T	ENSP00000505899.1:p.Asp162=
ENST00000680529.1:n.670C>T
ENST00000680661.1:c.486C>T	ENSP00000505088.1:p.Asp162=
ENST00000681054.1:c.486C>T	ENSP00000506192.1:p.Asp162=
ENST00000681523.1:c.486C>T	ENSP00000505349.1:p.Asp162=
ENST00000681645.1:n.525C>T
ENST00000681734.1:c.486C>T	ENSP00000506177.1:p.Asp162=
ENST00000681825.1:n.290C>T
ENST00000681922.1:n.525C>T
ENST00000368233.3:c.486C>T	ENSP00000357216.3:p.Asp162=
ENST00000368234.7:c.486C>T	ENSP00000357217.3:p.Asp162=
ENST00000368235.7:c.486C>T	ENSP00000357218.3:p.Asp162=
ENST00000467374.1:n.395C>T
NM_144772.2:c.486C>T	NP_658985.2:p.Asp162=
XM_017000319.2:c.486C>T	XP_016855808.1:p.Asp162=
NM_144772.3:c.486C>T MANE Select	NP_658985.2:p.Asp162=