Canonical Allele Identifier: CA388704428

Gene: NALCN

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101229502A>T , CM000675.2:g.101229502A>T	GRCh38
NC_000013.10:g.101881853A>T , CM000675.1:g.101881853A>T	GRCh37
NC_000013.9:g.100679854A>T	NCBI36
NG_053176.1:g.192705T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_052867.4:c.1517T>A MANE Select	NP_443099.1:p.Leu506His
ENST00000251127.11:c.1517T>A MANE Select	ENSP00000251127.6:p.Leu506His
NM_001350748.1:c.1517T>A	NP_001337677.1:p.Leu506His
NM_001350748.2:c.1517T>A	NP_001337677.1:p.Leu506His
NM_001350749.1:c.1517T>A	NP_001337678.1:p.Leu506His
NM_001350749.2:c.1517T>A	NP_001337678.1:p.Leu506His
NM_001350750.1:c.1430T>A	NP_001337679.1:p.Leu477His
NM_001350750.2:c.1430T>A	NP_001337679.1:p.Leu477His
NM_001350751.1:c.1430T>A	NP_001337680.1:p.Leu477His
NM_001350751.2:c.1430T>A	NP_001337680.1:p.Leu477His
NM_052867.2:c.1517T>A	NP_443099.1:p.Leu506His
NM_052867.3:c.1517T>A	NP_443099.1:p.Leu506His
ENST00000251127.10:c.1517T>A	ENSP00000251127.6:p.Leu506His
ENST00000470333.1:n.1613T>A
ENST00000497170.5:n.1671T>A
ENST00000648359.1:c.1517T>A	ENSP00000497465.1:p.Leu506His
ENST00000674840.1:n.1615T>A
ENST00000674904.1:n.1597T>A
ENST00000675150.1:c.1517T>A	ENSP00000502680.1:p.Leu506His
ENST00000675332.1:c.1517T>A	ENSP00000501955.1:p.Leu506His
ENST00000675594.1:c.*954T>A	ENSP00000502490.1:n.*954T>A
ENST00000675802.1:c.1517T>A	ENSP00000501818.1:p.Leu506His
ENST00000676315.1:c.1430T>A	ENSP00000501603.1:p.Leu477His
ENST00000676439.1:n.1691T>A
XM_011521067.1:c.1574T>A	XP_011519369.1:p.Leu525His
XM_011521067.2:c.1574T>A	XP_011519369.1:p.Leu525His
XM_011521068.1:c.1517T>A	XP_011519370.1:p.Leu506His
XM_011521069.1:c.1487T>A	XP_011519371.1:p.Leu496His
XM_011521069.2:c.1487T>A	XP_011519371.1:p.Leu496His
XM_011521070.1:c.1574T>A	XP_011519372.1:p.Leu525His
XM_017020536.2:c.1070T>A	XP_016876025.1:p.Leu357His
XM_017020537.1:c.752T>A	XP_016876026.1:p.Leu251His
XM_024449336.1:c.1574T>A	XP_024305104.1:p.Leu525His