Canonical Allele Identifier: CA342872995

Gene: NAXE

Linked Data

• gnomAD v4: 1-156592440-G-T
• MyVariant Identifiers: chr1:g.156562232G>T (hg19) ; chr1:g.156592440G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156592440G>T , CM000663.2:g.156592440G>T	GRCh38
NC_000001.10:g.156562232G>T , CM000663.1:g.156562232G>T	GRCh37
NC_000001.9:g.154828856G>T	NCBI36
NG_052542.1:g.5675G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368235.8:c.367G>T MANE Select	ENSP00000357218.3:p.Asp123Tyr
ENST00000467374.2:n.396G>T
ENST00000679369.1:c.292-117G>T	ENSP00000505883.1:n.292-117G>T
ENST00000679649.1:n.406G>T
ENST00000679702.1:c.367G>T	ENSP00000505913.1:p.Asp123Tyr
ENST00000679913.1:n.571G>T
ENST00000680004.1:c.367G>T	ENSP00000506275.1:p.Asp123Tyr
ENST00000680087.1:c.367G>T	ENSP00000505907.1:p.Asp123Tyr
ENST00000680269.1:c.367G>T	ENSP00000505899.1:p.Asp123Tyr
ENST00000680529.1:n.551G>T
ENST00000680661.1:c.367G>T	ENSP00000505088.1:p.Asp123Tyr
ENST00000681054.1:c.367G>T	ENSP00000506192.1:p.Asp123Tyr
ENST00000681523.1:c.367G>T	ENSP00000505349.1:p.Asp123Tyr
ENST00000681645.1:n.406G>T
ENST00000681734.1:c.367G>T	ENSP00000506177.1:p.Asp123Tyr
ENST00000681825.1:n.171G>T
ENST00000681922.1:n.406G>T
ENST00000368233.3:c.367G>T	ENSP00000357216.3:p.Asp123Tyr
ENST00000368234.7:c.367G>T	ENSP00000357217.3:p.Asp123Tyr
ENST00000368235.7:c.367G>T	ENSP00000357218.3:p.Asp123Tyr
ENST00000467374.1:n.276G>T
NM_144772.2:c.367G>T	NP_658985.2:p.Asp123Tyr
XM_017000319.2:c.367G>T	XP_016855808.1:p.Asp123Tyr
NM_144772.3:c.367G>T MANE Select	NP_658985.2:p.Asp123Tyr