Canonical Allele Identifier: CA388671376

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101795465G>A (hg19) ; chr13:g.101143114G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101143114G>A , CM000675.2:g.101143114G>A	GRCh38
NC_000013.10:g.101795465G>A , CM000675.1:g.101795465G>A	GRCh37
NC_000013.9:g.100593466G>A	NCBI36
NG_053176.1:g.279093C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.2084C>T MANE Select	ENSP00000251127.6:p.Ser695Leu
ENST00000467264.2:c.276C>T
ENST00000648359.1:c.2084C>T	ENSP00000497465.1:p.Ser695Leu
ENST00000675150.1:c.1840-18433C>T	ENSP00000502680.1:n.1840-18433C>T
ENST00000675332.1:c.2084C>T	ENSP00000501955.1:p.Ser695Leu
ENST00000675802.1:c.2084C>T	ENSP00000501818.1:p.Ser695Leu
ENST00000676315.1:c.1997C>T	ENSP00000501603.1:p.Ser666Leu
ENST00000251127.10:c.2084C>T	ENSP00000251127.6:p.Ser695Leu
ENST00000467264.1:n.108C>T
ENST00000497170.5:n.2238C>T
NM_052867.2:c.2084C>T	NP_443099.1:p.Ser695Leu
XM_011521067.1:c.2141C>T	XP_011519369.1:p.Ser714Leu
XM_011521068.1:c.2084C>T	XP_011519370.1:p.Ser695Leu
XM_011521069.1:c.2054C>T	XP_011519371.1:p.Ser685Leu
XM_011521070.1:c.1897-18433C>T	XP_011519372.1:n.1897-18433C>T
NM_001350748.1:c.2084C>T	NP_001337677.1:p.Ser695Leu
NM_001350749.1:c.2084C>T	NP_001337678.1:p.Ser695Leu
NM_001350750.1:c.1997C>T	NP_001337679.1:p.Ser666Leu
NM_001350751.1:c.1997C>T	NP_001337680.1:p.Ser666Leu
NM_052867.3:c.2084C>T	NP_443099.1:p.Ser695Leu
XM_011521067.2:c.2141C>T	XP_011519369.1:p.Ser714Leu
XM_011521069.2:c.2054C>T	XP_011519371.1:p.Ser685Leu
XM_017020536.2:c.1637C>T	XP_016876025.1:p.Ser546Leu
XM_017020537.1:c.1319C>T	XP_016876026.1:p.Ser440Leu
XM_024449336.1:c.2141C>T	XP_024305104.1:p.Ser714Leu
NM_052867.4:c.2084C>T MANE Select	NP_443099.1:p.Ser695Leu
NM_001350748.2:c.2084C>T	NP_001337677.1:p.Ser695Leu
NM_001350749.2:c.2084C>T	NP_001337678.1:p.Ser695Leu
NM_001350750.2:c.1997C>T	NP_001337679.1:p.Ser666Leu
NM_001350751.2:c.1997C>T	NP_001337680.1:p.Ser666Leu