Canonical Allele Identifier: CA388650268

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101733925C>A (hg19) ; chr13:g.101081574C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081574C>A , CM000675.2:g.101081574C>A	GRCh38
NC_000013.10:g.101733925C>A , CM000675.1:g.101733925C>A	GRCh37
NC_000013.9:g.100531926C>A	NCBI36
NG_053176.1:g.340633G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3838G>T MANE Select	ENSP00000251127.6:p.Val1280Leu
ENST00000648359.1:c.3838G>T	ENSP00000497465.1:p.Val1280Leu
ENST00000675150.1:c.3559G>T	ENSP00000502680.1:p.Val1187Leu
ENST00000675332.1:c.3925G>T	ENSP00000501955.1:p.Val1309Leu
ENST00000676315.1:c.3751G>T	ENSP00000501603.1:p.Val1251Leu
ENST00000251127.10:c.3838G>T	ENSP00000251127.6:p.Val1280Leu
NM_052867.2:c.3838G>T	NP_443099.1:p.Val1280Leu
XM_011521067.1:c.3895G>T	XP_011519369.1:p.Val1299Leu
XM_011521068.1:c.3838G>T	XP_011519370.1:p.Val1280Leu
XM_011521069.1:c.3808G>T	XP_011519371.1:p.Val1270Leu
XM_011521070.1:c.3616G>T	XP_011519372.1:p.Val1206Leu
NM_001350748.1:c.3925G>T	NP_001337677.1:p.Val1309Leu
NM_001350749.1:c.3838G>T	NP_001337678.1:p.Val1280Leu
NM_001350750.1:c.3751G>T	NP_001337679.1:p.Val1251Leu
NM_001350751.1:c.3751G>T	NP_001337680.1:p.Val1251Leu
NM_052867.3:c.3838G>T	NP_443099.1:p.Val1280Leu
XM_011521067.2:c.3895G>T	XP_011519369.1:p.Val1299Leu
XM_011521069.2:c.3808G>T	XP_011519371.1:p.Val1270Leu
XM_017020536.2:c.3391G>T	XP_016876025.1:p.Val1131Leu
XM_017020537.1:c.3073G>T	XP_016876026.1:p.Val1025Leu
XM_024449336.1:c.3982G>T	XP_024305104.1:p.Val1328Leu
NM_052867.4:c.3838G>T MANE Select	NP_443099.1:p.Val1280Leu
NM_001350748.2:c.3925G>T	NP_001337677.1:p.Val1309Leu
NM_001350749.2:c.3838G>T	NP_001337678.1:p.Val1280Leu
NM_001350750.2:c.3751G>T	NP_001337679.1:p.Val1251Leu
NM_001350751.2:c.3751G>T	NP_001337680.1:p.Val1251Leu