Canonical Allele Identifier: CA388705504

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.102029165T>C (hg19) ; chr13:g.101376814T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101376814T>C , CM000675.2:g.101376814T>C	GRCh38
NC_000013.10:g.102029165T>C , CM000675.1:g.102029165T>C	GRCh37
NC_000013.9:g.100827166T>C	NCBI36
NG_053176.1:g.45393A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.530A>G MANE Select	ENSP00000251127.6:p.Gln177Arg
ENST00000376200.6:c.530A>G	ENSP00000365373.5:p.Gln177Arg
ENST00000648359.1:c.530A>G	ENSP00000497465.1:p.Gln177Arg
ENST00000674840.1:n.628A>G
ENST00000674904.1:n.610A>G
ENST00000675150.1:c.530A>G	ENSP00000502680.1:p.Gln177Arg
ENST00000675332.1:c.530A>G	ENSP00000501955.1:p.Gln177Arg
ENST00000675415.1:n.713A>G
ENST00000675594.1:c.530A>G	ENSP00000502490.1:p.Gln177Arg
ENST00000675802.1:c.530A>G	ENSP00000501818.1:p.Gln177Arg
ENST00000676315.1:c.530A>G	ENSP00000501603.1:p.Gln177Arg
ENST00000676357.1:n.750A>G
ENST00000676439.1:n.704A>G
ENST00000251127.10:c.530A>G	ENSP00000251127.6:p.Gln177Arg
ENST00000376200.5:c.530A>G	ENSP00000365373.5:p.Gln177Arg
ENST00000470333.1:n.626A>G
ENST00000497170.5:n.719A>G
NM_052867.2:c.530A>G	NP_443099.1:p.Gln177Arg
XM_011521067.1:c.587A>G	XP_011519369.1:p.Gln196Arg
XM_011521068.1:c.530A>G	XP_011519370.1:p.Gln177Arg
XM_011521069.1:c.587A>G	XP_011519371.1:p.Gln196Arg
XM_011521070.1:c.587A>G	XP_011519372.1:p.Gln196Arg
NM_001350748.1:c.530A>G	NP_001337677.1:p.Gln177Arg
NM_001350749.1:c.530A>G	NP_001337678.1:p.Gln177Arg
NM_001350750.1:c.530A>G	NP_001337679.1:p.Gln177Arg
NM_001350751.1:c.530A>G	NP_001337680.1:p.Gln177Arg
NM_052867.3:c.530A>G	NP_443099.1:p.Gln177Arg
XM_011521067.2:c.587A>G	XP_011519369.1:p.Gln196Arg
XM_011521069.2:c.587A>G	XP_011519371.1:p.Gln196Arg
XM_024449336.1:c.587A>G	XP_024305104.1:p.Gln196Arg
NM_052867.4:c.530A>G MANE Select	NP_443099.1:p.Gln177Arg
NM_001350748.2:c.530A>G	NP_001337677.1:p.Gln177Arg
NM_001350749.2:c.530A>G	NP_001337678.1:p.Gln177Arg
NM_001350750.2:c.530A>G	NP_001337679.1:p.Gln177Arg
NM_001350751.2:c.530A>G	NP_001337680.1:p.Gln177Arg