Canonical Allele Identifier: CA388669228

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101755573T>A (hg19) ; chr13:g.101103222T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101103222T>A , CM000675.2:g.101103222T>A	GRCh38
NC_000013.10:g.101755573T>A , CM000675.1:g.101755573T>A	GRCh37
NC_000013.9:g.100553574T>A	NCBI36
NG_053176.1:g.318985A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.3007A>T MANE Select	ENSP00000251127.6:p.Met1003Leu
ENST00000648359.1:c.3007A>T	ENSP00000497465.1:p.Met1003Leu
ENST00000675150.1:c.2728A>T	ENSP00000502680.1:p.Met910Leu
ENST00000675332.1:c.3094A>T	ENSP00000501955.1:p.Met1032Leu
ENST00000676315.1:c.2920A>T	ENSP00000501603.1:p.Met974Leu
ENST00000251127.10:c.3007A>T	ENSP00000251127.6:p.Met1003Leu
NM_052867.2:c.3007A>T	NP_443099.1:p.Met1003Leu
XM_011521067.1:c.3064A>T	XP_011519369.1:p.Met1022Leu
XM_011521068.1:c.3007A>T	XP_011519370.1:p.Met1003Leu
XM_011521069.1:c.2977A>T	XP_011519371.1:p.Met993Leu
XM_011521070.1:c.2785A>T	XP_011519372.1:p.Met929Leu
NM_001350748.1:c.3094A>T	NP_001337677.1:p.Met1032Leu
NM_001350749.1:c.3007A>T	NP_001337678.1:p.Met1003Leu
NM_001350750.1:c.2920A>T	NP_001337679.1:p.Met974Leu
NM_001350751.1:c.2920A>T	NP_001337680.1:p.Met974Leu
NM_052867.3:c.3007A>T	NP_443099.1:p.Met1003Leu
XM_011521067.2:c.3064A>T	XP_011519369.1:p.Met1022Leu
XM_011521069.2:c.2977A>T	XP_011519371.1:p.Met993Leu
XM_017020536.2:c.2560A>T	XP_016876025.1:p.Met854Leu
XM_017020537.1:c.2242A>T	XP_016876026.1:p.Met748Leu
XM_024449336.1:c.3151A>T	XP_024305104.1:p.Met1051Leu
NM_052867.4:c.3007A>T MANE Select	NP_443099.1:p.Met1003Leu
NM_001350748.2:c.3094A>T	NP_001337677.1:p.Met1032Leu
NM_001350749.2:c.3007A>T	NP_001337678.1:p.Met1003Leu
NM_001350750.2:c.2920A>T	NP_001337679.1:p.Met974Leu
NM_001350751.2:c.2920A>T	NP_001337680.1:p.Met974Leu