Canonical Allele Identifier: CA388650493

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101733990A>T (hg19) ; chr13:g.101081639A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081639A>T , CM000675.2:g.101081639A>T	GRCh38
NC_000013.10:g.101733990A>T , CM000675.1:g.101733990A>T	GRCh37
NC_000013.9:g.100531991A>T	NCBI36
NG_053176.1:g.340568T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3773T>A MANE Select	ENSP00000251127.6:p.Met1258Lys
ENST00000648359.1:c.3773T>A	ENSP00000497465.1:p.Met1258Lys
ENST00000675150.1:c.3494T>A	ENSP00000502680.1:p.Met1165Lys
ENST00000675332.1:c.3860T>A	ENSP00000501955.1:p.Met1287Lys
ENST00000676315.1:c.3686T>A	ENSP00000501603.1:p.Met1229Lys
ENST00000251127.10:c.3773T>A	ENSP00000251127.6:p.Met1258Lys
NM_052867.2:c.3773T>A	NP_443099.1:p.Met1258Lys
XM_011521067.1:c.3830T>A	XP_011519369.1:p.Met1277Lys
XM_011521068.1:c.3773T>A	XP_011519370.1:p.Met1258Lys
XM_011521069.1:c.3743T>A	XP_011519371.1:p.Met1248Lys
XM_011521070.1:c.3551T>A	XP_011519372.1:p.Met1184Lys
NM_001350748.1:c.3860T>A	NP_001337677.1:p.Met1287Lys
NM_001350749.1:c.3773T>A	NP_001337678.1:p.Met1258Lys
NM_001350750.1:c.3686T>A	NP_001337679.1:p.Met1229Lys
NM_001350751.1:c.3686T>A	NP_001337680.1:p.Met1229Lys
NM_052867.3:c.3773T>A	NP_443099.1:p.Met1258Lys
XM_011521067.2:c.3830T>A	XP_011519369.1:p.Met1277Lys
XM_011521069.2:c.3743T>A	XP_011519371.1:p.Met1248Lys
XM_017020536.2:c.3326T>A	XP_016876025.1:p.Met1109Lys
XM_017020537.1:c.3008T>A	XP_016876026.1:p.Met1003Lys
XM_024449336.1:c.3917T>A	XP_024305104.1:p.Met1306Lys
NM_052867.4:c.3773T>A MANE Select	NP_443099.1:p.Met1258Lys
NM_001350748.2:c.3860T>A	NP_001337677.1:p.Met1287Lys
NM_001350749.2:c.3773T>A	NP_001337678.1:p.Met1258Lys
NM_001350750.2:c.3686T>A	NP_001337679.1:p.Met1229Lys
NM_001350751.2:c.3686T>A	NP_001337680.1:p.Met1229Lys