Canonical Allele Identifier: CA388650429

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101733974C>A (hg19) ; chr13:g.101081623C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081623C>A , CM000675.2:g.101081623C>A	GRCh38
NC_000013.10:g.101733974C>A , CM000675.1:g.101733974C>A	GRCh37
NC_000013.9:g.100531975C>A	NCBI36
NG_053176.1:g.340584G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3789G>T MANE Select	ENSP00000251127.6:p.Met1263Ile
ENST00000648359.1:c.3789G>T	ENSP00000497465.1:p.Met1263Ile
ENST00000675150.1:c.3510G>T	ENSP00000502680.1:p.Met1170Ile
ENST00000675332.1:c.3876G>T	ENSP00000501955.1:p.Met1292Ile
ENST00000676315.1:c.3702G>T	ENSP00000501603.1:p.Met1234Ile
ENST00000251127.10:c.3789G>T	ENSP00000251127.6:p.Met1263Ile
NM_052867.2:c.3789G>T	NP_443099.1:p.Met1263Ile
XM_011521067.1:c.3846G>T	XP_011519369.1:p.Met1282Ile
XM_011521068.1:c.3789G>T	XP_011519370.1:p.Met1263Ile
XM_011521069.1:c.3759G>T	XP_011519371.1:p.Met1253Ile
XM_011521070.1:c.3567G>T	XP_011519372.1:p.Met1189Ile
NM_001350748.1:c.3876G>T	NP_001337677.1:p.Met1292Ile
NM_001350749.1:c.3789G>T	NP_001337678.1:p.Met1263Ile
NM_001350750.1:c.3702G>T	NP_001337679.1:p.Met1234Ile
NM_001350751.1:c.3702G>T	NP_001337680.1:p.Met1234Ile
NM_052867.3:c.3789G>T	NP_443099.1:p.Met1263Ile
XM_011521067.2:c.3846G>T	XP_011519369.1:p.Met1282Ile
XM_011521069.2:c.3759G>T	XP_011519371.1:p.Met1253Ile
XM_017020536.2:c.3342G>T	XP_016876025.1:p.Met1114Ile
XM_017020537.1:c.3024G>T	XP_016876026.1:p.Met1008Ile
XM_024449336.1:c.3933G>T	XP_024305104.1:p.Met1311Ile
NM_052867.4:c.3789G>T MANE Select	NP_443099.1:p.Met1263Ile
NM_001350748.2:c.3876G>T	NP_001337677.1:p.Met1292Ile
NM_001350749.2:c.3789G>T	NP_001337678.1:p.Met1263Ile
NM_001350750.2:c.3702G>T	NP_001337679.1:p.Met1234Ile
NM_001350751.2:c.3702G>T	NP_001337680.1:p.Met1234Ile