Canonical Allele Identifier: CA388703593

Gene: NALCN

Linked Data

• gnomAD v4: 13-101192021-C-T
• MyVariant Identifiers: chr13:g.101844372C>T (hg19) ; chr13:g.101192021C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101192021C>T , CM000675.2:g.101192021C>T	GRCh38
NC_000013.10:g.101844372C>T , CM000675.1:g.101844372C>T	GRCh37
NC_000013.9:g.100642373C>T	NCBI36
NG_053176.1:g.230186G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.1660G>A MANE Select	ENSP00000251127.6:p.Glu554Lys
ENST00000648359.1:c.1660G>A	ENSP00000497465.1:p.Glu554Lys
ENST00000674840.1:n.1758G>A
ENST00000674904.1:n.1740G>A
ENST00000675150.1:c.1660G>A	ENSP00000502680.1:p.Glu554Lys
ENST00000675332.1:c.1660G>A	ENSP00000501955.1:p.Glu554Lys
ENST00000675594.1:c.*1097G>A	ENSP00000502490.1:n.*1097G>A
ENST00000675802.1:c.1660G>A	ENSP00000501818.1:p.Glu554Lys
ENST00000676315.1:c.1573G>A	ENSP00000501603.1:p.Glu525Lys
ENST00000676439.1:n.1834G>A
ENST00000251127.10:c.1660G>A	ENSP00000251127.6:p.Glu554Lys
ENST00000470333.1:n.1756G>A
ENST00000497170.5:n.1814G>A
NM_052867.2:c.1660G>A	NP_443099.1:p.Glu554Lys
XM_011521067.1:c.1717G>A	XP_011519369.1:p.Glu573Lys
XM_011521068.1:c.1660G>A	XP_011519370.1:p.Glu554Lys
XM_011521069.1:c.1630G>A	XP_011519371.1:p.Glu544Lys
XM_011521070.1:c.1717G>A	XP_011519372.1:p.Glu573Lys
NM_001350748.1:c.1660G>A	NP_001337677.1:p.Glu554Lys
NM_001350749.1:c.1660G>A	NP_001337678.1:p.Glu554Lys
NM_001350750.1:c.1573G>A	NP_001337679.1:p.Glu525Lys
NM_001350751.1:c.1573G>A	NP_001337680.1:p.Glu525Lys
NM_052867.3:c.1660G>A	NP_443099.1:p.Glu554Lys
XM_011521067.2:c.1717G>A	XP_011519369.1:p.Glu573Lys
XM_011521069.2:c.1630G>A	XP_011519371.1:p.Glu544Lys
XM_017020536.2:c.1213G>A	XP_016876025.1:p.Glu405Lys
XM_017020537.1:c.895G>A	XP_016876026.1:p.Glu299Lys
XM_024449336.1:c.1717G>A	XP_024305104.1:p.Glu573Lys
NM_052867.4:c.1660G>A MANE Select	NP_443099.1:p.Glu554Lys
NM_001350748.2:c.1660G>A	NP_001337677.1:p.Glu554Lys
NM_001350749.2:c.1660G>A	NP_001337678.1:p.Glu554Lys
NM_001350750.2:c.1573G>A	NP_001337679.1:p.Glu525Lys
NM_001350751.2:c.1573G>A	NP_001337680.1:p.Glu525Lys