Canonical Allele Identifier: CA388671749

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101797165G>A (hg19) ; chr13:g.101144814G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101144814G>A , CM000675.2:g.101144814G>A	GRCh38
NC_000013.10:g.101797165G>A , CM000675.1:g.101797165G>A	GRCh37
NC_000013.9:g.100595166G>A	NCBI36
NG_053176.1:g.277393C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.1922C>T MANE Select	ENSP00000251127.6:p.Pro641Leu
ENST00000467264.2:c.114C>T
ENST00000648359.1:c.1922C>T	ENSP00000497465.1:p.Pro641Leu
ENST00000675150.1:c.1840-20133C>T	ENSP00000502680.1:n.1840-20133C>T
ENST00000675332.1:c.1922C>T	ENSP00000501955.1:p.Pro641Leu
ENST00000675802.1:c.1922C>T	ENSP00000501818.1:p.Pro641Leu
ENST00000676315.1:c.1835C>T	ENSP00000501603.1:p.Pro612Leu
ENST00000251127.10:c.1922C>T	ENSP00000251127.6:p.Pro641Leu
ENST00000497170.5:n.2076C>T
NM_052867.2:c.1922C>T	NP_443099.1:p.Pro641Leu
XM_011521067.1:c.1979C>T	XP_011519369.1:p.Pro660Leu
XM_011521068.1:c.1922C>T	XP_011519370.1:p.Pro641Leu
XM_011521069.1:c.1892C>T	XP_011519371.1:p.Pro631Leu
XM_011521070.1:c.1897-20133C>T	XP_011519372.1:n.1897-20133C>T
NM_001350748.1:c.1922C>T	NP_001337677.1:p.Pro641Leu
NM_001350749.1:c.1922C>T	NP_001337678.1:p.Pro641Leu
NM_001350750.1:c.1835C>T	NP_001337679.1:p.Pro612Leu
NM_001350751.1:c.1835C>T	NP_001337680.1:p.Pro612Leu
NM_052867.3:c.1922C>T	NP_443099.1:p.Pro641Leu
XM_011521067.2:c.1979C>T	XP_011519369.1:p.Pro660Leu
XM_011521069.2:c.1892C>T	XP_011519371.1:p.Pro631Leu
XM_017020536.2:c.1475C>T	XP_016876025.1:p.Pro492Leu
XM_017020537.1:c.1157C>T	XP_016876026.1:p.Pro386Leu
XM_024449336.1:c.1979C>T	XP_024305104.1:p.Pro660Leu
NM_052867.4:c.1922C>T MANE Select	NP_443099.1:p.Pro641Leu
NM_001350748.2:c.1922C>T	NP_001337677.1:p.Pro641Leu
NM_001350749.2:c.1922C>T	NP_001337678.1:p.Pro641Leu
NM_001350750.2:c.1835C>T	NP_001337679.1:p.Pro612Leu
NM_001350751.2:c.1835C>T	NP_001337680.1:p.Pro612Leu