Canonical Allele Identifier: CA342873032

Gene: NAXE

Linked Data

• MyVariant Identifiers: chr1:g.156562239T>G (hg19) ; chr1:g.156592447T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156592447T>G , CM000663.2:g.156592447T>G	GRCh38
NC_000001.10:g.156562239T>G , CM000663.1:g.156562239T>G	GRCh37
NC_000001.9:g.154828863T>G	NCBI36
NG_052542.1:g.5682T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368235.8:c.374T>G MANE Select	ENSP00000357218.3:p.Leu125Arg
ENST00000467374.2:n.403T>G
ENST00000679369.1:c.292-110T>G	ENSP00000505883.1:n.292-110T>G
ENST00000679649.1:n.413T>G
ENST00000679702.1:c.374T>G	ENSP00000505913.1:p.Leu125Arg
ENST00000679913.1:n.578T>G
ENST00000680004.1:c.374T>G	ENSP00000506275.1:p.Leu125Arg
ENST00000680087.1:c.374T>G	ENSP00000505907.1:p.Leu125Arg
ENST00000680269.1:c.374T>G	ENSP00000505899.1:p.Leu125Arg
ENST00000680529.1:n.558T>G
ENST00000680661.1:c.374T>G	ENSP00000505088.1:p.Leu125Arg
ENST00000681054.1:c.374T>G	ENSP00000506192.1:p.Leu125Arg
ENST00000681523.1:c.374T>G	ENSP00000505349.1:p.Leu125Arg
ENST00000681645.1:n.413T>G
ENST00000681734.1:c.374T>G	ENSP00000506177.1:p.Leu125Arg
ENST00000681825.1:n.178T>G
ENST00000681922.1:n.413T>G
ENST00000368233.3:c.374T>G	ENSP00000357216.3:p.Leu125Arg
ENST00000368234.7:c.374T>G	ENSP00000357217.3:p.Leu125Arg
ENST00000368235.7:c.374T>G	ENSP00000357218.3:p.Leu125Arg
ENST00000467374.1:n.283T>G
NM_144772.2:c.374T>G	NP_658985.2:p.Leu125Arg
XM_017000319.2:c.374T>G	XP_016855808.1:p.Leu125Arg
NM_144772.3:c.374T>G MANE Select	NP_658985.2:p.Leu125Arg