Canonical Allele Identifier: CA388650238

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101733915A>T (hg19) ; chr13:g.101081564A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081564A>T , CM000675.2:g.101081564A>T	GRCh38
NC_000013.10:g.101733915A>T , CM000675.1:g.101733915A>T	GRCh37
NC_000013.9:g.100531916A>T	NCBI36
NG_053176.1:g.340643T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3848T>A MANE Select	ENSP00000251127.6:p.Leu1283His
ENST00000648359.1:c.3848T>A	ENSP00000497465.1:p.Leu1283His
ENST00000675150.1:c.3569T>A	ENSP00000502680.1:p.Leu1190His
ENST00000675332.1:c.3935T>A	ENSP00000501955.1:p.Leu1312His
ENST00000676315.1:c.3761T>A	ENSP00000501603.1:p.Leu1254His
ENST00000251127.10:c.3848T>A	ENSP00000251127.6:p.Leu1283His
NM_052867.2:c.3848T>A	NP_443099.1:p.Leu1283His
XM_011521067.1:c.3905T>A	XP_011519369.1:p.Leu1302His
XM_011521068.1:c.3848T>A	XP_011519370.1:p.Leu1283His
XM_011521069.1:c.3818T>A	XP_011519371.1:p.Leu1273His
XM_011521070.1:c.3626T>A	XP_011519372.1:p.Leu1209His
NM_001350748.1:c.3935T>A	NP_001337677.1:p.Leu1312His
NM_001350749.1:c.3848T>A	NP_001337678.1:p.Leu1283His
NM_001350750.1:c.3761T>A	NP_001337679.1:p.Leu1254His
NM_001350751.1:c.3761T>A	NP_001337680.1:p.Leu1254His
NM_052867.3:c.3848T>A	NP_443099.1:p.Leu1283His
XM_011521067.2:c.3905T>A	XP_011519369.1:p.Leu1302His
XM_011521069.2:c.3818T>A	XP_011519371.1:p.Leu1273His
XM_017020536.2:c.3401T>A	XP_016876025.1:p.Leu1134His
XM_017020537.1:c.3083T>A	XP_016876026.1:p.Leu1028His
XM_024449336.1:c.3992T>A	XP_024305104.1:p.Leu1331His
NM_052867.4:c.3848T>A MANE Select	NP_443099.1:p.Leu1283His
NM_001350748.2:c.3935T>A	NP_001337677.1:p.Leu1312His
NM_001350749.2:c.3848T>A	NP_001337678.1:p.Leu1283His
NM_001350750.2:c.3761T>A	NP_001337679.1:p.Leu1254His
NM_001350751.2:c.3761T>A	NP_001337680.1:p.Leu1254His