Canonical Allele Identifier: CA388669215

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101755569C>A (hg19) ; chr13:g.101103218C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101103218C>A , CM000675.2:g.101103218C>A	GRCh38
NC_000013.10:g.101755569C>A , CM000675.1:g.101755569C>A	GRCh37
NC_000013.9:g.100553570C>A	NCBI36
NG_053176.1:g.318989G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.3011G>T MANE Select	ENSP00000251127.6:p.Arg1004Met
ENST00000648359.1:c.3011G>T	ENSP00000497465.1:p.Arg1004Met
ENST00000675150.1:c.2732G>T	ENSP00000502680.1:p.Arg911Met
ENST00000675332.1:c.3098G>T	ENSP00000501955.1:p.Arg1033Met
ENST00000676315.1:c.2924G>T	ENSP00000501603.1:p.Arg975Met
ENST00000251127.10:c.3011G>T	ENSP00000251127.6:p.Arg1004Met
NM_052867.2:c.3011G>T	NP_443099.1:p.Arg1004Met
XM_011521067.1:c.3068G>T	XP_011519369.1:p.Arg1023Met
XM_011521068.1:c.3011G>T	XP_011519370.1:p.Arg1004Met
XM_011521069.1:c.2981G>T	XP_011519371.1:p.Arg994Met
XM_011521070.1:c.2789G>T	XP_011519372.1:p.Arg930Met
NM_001350748.1:c.3098G>T	NP_001337677.1:p.Arg1033Met
NM_001350749.1:c.3011G>T	NP_001337678.1:p.Arg1004Met
NM_001350750.1:c.2924G>T	NP_001337679.1:p.Arg975Met
NM_001350751.1:c.2924G>T	NP_001337680.1:p.Arg975Met
NM_052867.3:c.3011G>T	NP_443099.1:p.Arg1004Met
XM_011521067.2:c.3068G>T	XP_011519369.1:p.Arg1023Met
XM_011521069.2:c.2981G>T	XP_011519371.1:p.Arg994Met
XM_017020536.2:c.2564G>T	XP_016876025.1:p.Arg855Met
XM_017020537.1:c.2246G>T	XP_016876026.1:p.Arg749Met
XM_024449336.1:c.3155G>T	XP_024305104.1:p.Arg1052Met
NM_052867.4:c.3011G>T MANE Select	NP_443099.1:p.Arg1004Met
NM_001350748.2:c.3098G>T	NP_001337677.1:p.Arg1033Met
NM_001350749.2:c.3011G>T	NP_001337678.1:p.Arg1004Met
NM_001350750.2:c.2924G>T	NP_001337679.1:p.Arg975Met
NM_001350751.2:c.2924G>T	NP_001337680.1:p.Arg975Met