Canonical Allele Identifier: CA342873509

Gene: NAXE

Linked Data

• gnomAD v4: 1-156592591-C-T
• MyVariant Identifiers: chr1:g.156562383C>T (hg19) ; chr1:g.156592591C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156592591C>T , CM000663.2:g.156592591C>T	GRCh38
NC_000001.10:g.156562383C>T , CM000663.1:g.156562383C>T	GRCh37
NC_000001.9:g.154829007C>T	NCBI36
NG_052542.1:g.5826C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368235.8:c.437C>T MANE Select	ENSP00000357218.3:p.Pro146Leu
ENST00000467374.2:n.547C>T
ENST00000679369.1:c.326C>T	ENSP00000505883.1:p.Pro109Leu
ENST00000679649.1:n.476C>T
ENST00000679702.1:c.437C>T	ENSP00000505913.1:p.Pro146Leu
ENST00000679913.1:n.641C>T
ENST00000680004.1:c.437C>T	ENSP00000506275.1:p.Pro146Leu
ENST00000680087.1:c.437C>T	ENSP00000505907.1:p.Pro146Leu
ENST00000680269.1:c.437C>T	ENSP00000505899.1:p.Pro146Leu
ENST00000680529.1:n.621C>T
ENST00000680661.1:c.437C>T	ENSP00000505088.1:p.Pro146Leu
ENST00000681054.1:c.437C>T	ENSP00000506192.1:p.Pro146Leu
ENST00000681523.1:c.437C>T	ENSP00000505349.1:p.Pro146Leu
ENST00000681645.1:n.476C>T
ENST00000681734.1:c.437C>T	ENSP00000506177.1:p.Pro146Leu
ENST00000681825.1:n.241C>T
ENST00000681922.1:n.476C>T
ENST00000368233.3:c.437C>T	ENSP00000357216.3:p.Pro146Leu
ENST00000368234.7:c.437C>T	ENSP00000357217.3:p.Pro146Leu
ENST00000368235.7:c.437C>T	ENSP00000357218.3:p.Pro146Leu
ENST00000467374.1:n.346C>T
NM_144772.2:c.437C>T	NP_658985.2:p.Pro146Leu
XM_017000319.2:c.437C>T	XP_016855808.1:p.Pro146Leu
NM_144772.3:c.437C>T MANE Select	NP_658985.2:p.Pro146Leu