Canonical Allele Identifier: CA388650246

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101733918G>C (hg19) ; chr13:g.101081567G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081567G>C , CM000675.2:g.101081567G>C	GRCh38
NC_000013.10:g.101733918G>C , CM000675.1:g.101733918G>C	GRCh37
NC_000013.9:g.100531919G>C	NCBI36
NG_053176.1:g.340640C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3845C>G MANE Select	ENSP00000251127.6:p.Ser1282Trp
ENST00000648359.1:c.3845C>G	ENSP00000497465.1:p.Ser1282Trp
ENST00000675150.1:c.3566C>G	ENSP00000502680.1:p.Ser1189Trp
ENST00000675332.1:c.3932C>G	ENSP00000501955.1:p.Ser1311Trp
ENST00000676315.1:c.3758C>G	ENSP00000501603.1:p.Ser1253Trp
ENST00000251127.10:c.3845C>G	ENSP00000251127.6:p.Ser1282Trp
NM_052867.2:c.3845C>G	NP_443099.1:p.Ser1282Trp
XM_011521067.1:c.3902C>G	XP_011519369.1:p.Ser1301Trp
XM_011521068.1:c.3845C>G	XP_011519370.1:p.Ser1282Trp
XM_011521069.1:c.3815C>G	XP_011519371.1:p.Ser1272Trp
XM_011521070.1:c.3623C>G	XP_011519372.1:p.Ser1208Trp
NM_001350748.1:c.3932C>G	NP_001337677.1:p.Ser1311Trp
NM_001350749.1:c.3845C>G	NP_001337678.1:p.Ser1282Trp
NM_001350750.1:c.3758C>G	NP_001337679.1:p.Ser1253Trp
NM_001350751.1:c.3758C>G	NP_001337680.1:p.Ser1253Trp
NM_052867.3:c.3845C>G	NP_443099.1:p.Ser1282Trp
XM_011521067.2:c.3902C>G	XP_011519369.1:p.Ser1301Trp
XM_011521069.2:c.3815C>G	XP_011519371.1:p.Ser1272Trp
XM_017020536.2:c.3398C>G	XP_016876025.1:p.Ser1133Trp
XM_017020537.1:c.3080C>G	XP_016876026.1:p.Ser1027Trp
XM_024449336.1:c.3989C>G	XP_024305104.1:p.Ser1330Trp
NM_052867.4:c.3845C>G MANE Select	NP_443099.1:p.Ser1282Trp
NM_001350748.2:c.3932C>G	NP_001337677.1:p.Ser1311Trp
NM_001350749.2:c.3845C>G	NP_001337678.1:p.Ser1282Trp
NM_001350750.2:c.3758C>G	NP_001337679.1:p.Ser1253Trp
NM_001350751.2:c.3758C>G	NP_001337680.1:p.Ser1253Trp