Canonical Allele Identifier: CA1162764

Gene: NAXE

Linked Data

• dbSNP Id: rs747314769
• ExAC: 1:156562338 T / C
• gnomAD v2: 1-156562338-T-C
• gnomAD v3: 1-156592546-T-C
• gnomAD v4: 1-156592546-T-C
• MyVariant Identifiers: chr1:g.156562338T>C (hg19) ; chr1:g.156592546T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156592546T>C , CM000663.2:g.156592546T>C	GRCh38
NC_000001.10:g.156562338T>C , CM000663.1:g.156562338T>C	GRCh37
NC_000001.9:g.154828962T>C	NCBI36
NG_052542.1:g.5781T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368235.8:c.403-11T>C MANE Select	ENSP00000357218.3:n.403-11T>C
ENST00000467374.2:n.502T>C
ENST00000679369.1:c.292-11T>C	ENSP00000505883.1:n.292-11T>C
ENST00000679649.1:n.442-11T>C
ENST00000679702.1:c.403-11T>C	ENSP00000505913.1:n.403-11T>C
ENST00000679913.1:n.607-11T>C
ENST00000680004.1:c.403-11T>C	ENSP00000506275.1:n.403-11T>C
ENST00000680087.1:c.403-11T>C	ENSP00000505907.1:n.403-11T>C
ENST00000680269.1:c.403-11T>C	ENSP00000505899.1:n.403-11T>C
ENST00000680529.1:n.587-11T>C
ENST00000680661.1:c.403-11T>C	ENSP00000505088.1:n.403-11T>C
ENST00000681054.1:c.403-11T>C	ENSP00000506192.1:n.403-11T>C
ENST00000681523.1:c.403-11T>C	ENSP00000505349.1:n.403-11T>C
ENST00000681645.1:n.442-11T>C
ENST00000681734.1:c.403-11T>C	ENSP00000506177.1:n.403-11T>C
ENST00000681825.1:n.207-11T>C
ENST00000681922.1:n.442-11T>C
ENST00000368233.3:c.403-11T>C	ENSP00000357216.3:n.403-11T>C
ENST00000368234.7:c.403-11T>C	ENSP00000357217.3:n.403-11T>C
ENST00000368235.7:c.403-11T>C	ENSP00000357218.3:n.403-11T>C
ENST00000467374.1:n.312-11T>C
NM_144772.2:c.403-11T>C	NP_658985.2:n.403-11T>C
XM_017000319.2:c.403-11T>C	XP_016855808.1:n.403-11T>C
NM_144772.3:c.403-11T>C MANE Select	NP_658985.2:n.403-11T>C