Canonical Allele Identifier: CA388653595

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101748001C>G (hg19) ; chr13:g.101095650C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101095650C>G , CM000675.2:g.101095650C>G	GRCh38
NC_000013.10:g.101748001C>G , CM000675.1:g.101748001C>G	GRCh37
NC_000013.9:g.100546002C>G	NCBI36
NG_053176.1:g.326557G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3193G>C MANE Select	ENSP00000251127.6:p.Val1065Leu
ENST00000648359.1:c.3193G>C	ENSP00000497465.1:p.Val1065Leu
ENST00000675150.1:c.2914G>C	ENSP00000502680.1:p.Val972Leu
ENST00000675332.1:c.3280G>C	ENSP00000501955.1:p.Val1094Leu
ENST00000676315.1:c.3106G>C	ENSP00000501603.1:p.Val1036Leu
ENST00000251127.10:c.3193G>C	ENSP00000251127.6:p.Val1065Leu
NM_052867.2:c.3193G>C	NP_443099.1:p.Val1065Leu
XM_011521067.1:c.3250G>C	XP_011519369.1:p.Val1084Leu
XM_011521068.1:c.3193G>C	XP_011519370.1:p.Val1065Leu
XM_011521069.1:c.3163G>C	XP_011519371.1:p.Val1055Leu
XM_011521070.1:c.2971G>C	XP_011519372.1:p.Val991Leu
NM_001350748.1:c.3280G>C	NP_001337677.1:p.Val1094Leu
NM_001350749.1:c.3193G>C	NP_001337678.1:p.Val1065Leu
NM_001350750.1:c.3106G>C	NP_001337679.1:p.Val1036Leu
NM_001350751.1:c.3106G>C	NP_001337680.1:p.Val1036Leu
NM_052867.3:c.3193G>C	NP_443099.1:p.Val1065Leu
XM_011521067.2:c.3250G>C	XP_011519369.1:p.Val1084Leu
XM_011521069.2:c.3163G>C	XP_011519371.1:p.Val1055Leu
XM_017020536.2:c.2746G>C	XP_016876025.1:p.Val916Leu
XM_017020537.1:c.2428G>C	XP_016876026.1:p.Val810Leu
XM_024449336.1:c.3337G>C	XP_024305104.1:p.Val1113Leu
NM_052867.4:c.3193G>C MANE Select	NP_443099.1:p.Val1065Leu
NM_001350748.2:c.3280G>C	NP_001337677.1:p.Val1094Leu
NM_001350749.2:c.3193G>C	NP_001337678.1:p.Val1065Leu
NM_001350750.2:c.3106G>C	NP_001337679.1:p.Val1036Leu
NM_001350751.2:c.3106G>C	NP_001337680.1:p.Val1036Leu