Canonical Allele Identifier: CA388671550

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101795547C>T (hg19) ; chr13:g.101143196C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101143196C>T , CM000675.2:g.101143196C>T	GRCh38
NC_000013.10:g.101795547C>T , CM000675.1:g.101795547C>T	GRCh37
NC_000013.9:g.100593548C>T	NCBI36
NG_053176.1:g.279011G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.2002G>A MANE Select	ENSP00000251127.6:p.Asp668Asn
ENST00000467264.2:c.194G>A
ENST00000648359.1:c.2002G>A	ENSP00000497465.1:p.Asp668Asn
ENST00000675150.1:c.1840-18515G>A	ENSP00000502680.1:n.1840-18515G>A
ENST00000675332.1:c.2002G>A	ENSP00000501955.1:p.Asp668Asn
ENST00000675802.1:c.2002G>A	ENSP00000501818.1:p.Asp668Asn
ENST00000676315.1:c.1915G>A	ENSP00000501603.1:p.Asp639Asn
ENST00000251127.10:c.2002G>A	ENSP00000251127.6:p.Asp668Asn
ENST00000467264.1:n.26G>A
ENST00000497170.5:n.2156G>A
NM_052867.2:c.2002G>A	NP_443099.1:p.Asp668Asn
XM_011521067.1:c.2059G>A	XP_011519369.1:p.Asp687Asn
XM_011521068.1:c.2002G>A	XP_011519370.1:p.Asp668Asn
XM_011521069.1:c.1972G>A	XP_011519371.1:p.Asp658Asn
XM_011521070.1:c.1897-18515G>A	XP_011519372.1:n.1897-18515G>A
NM_001350748.1:c.2002G>A	NP_001337677.1:p.Asp668Asn
NM_001350749.1:c.2002G>A	NP_001337678.1:p.Asp668Asn
NM_001350750.1:c.1915G>A	NP_001337679.1:p.Asp639Asn
NM_001350751.1:c.1915G>A	NP_001337680.1:p.Asp639Asn
NM_052867.3:c.2002G>A	NP_443099.1:p.Asp668Asn
XM_011521067.2:c.2059G>A	XP_011519369.1:p.Asp687Asn
XM_011521069.2:c.1972G>A	XP_011519371.1:p.Asp658Asn
XM_017020536.2:c.1555G>A	XP_016876025.1:p.Asp519Asn
XM_017020537.1:c.1237G>A	XP_016876026.1:p.Asp413Asn
XM_024449336.1:c.2059G>A	XP_024305104.1:p.Asp687Asn
NM_052867.4:c.2002G>A MANE Select	NP_443099.1:p.Asp668Asn
NM_001350748.2:c.2002G>A	NP_001337677.1:p.Asp668Asn
NM_001350749.2:c.2002G>A	NP_001337678.1:p.Asp668Asn
NM_001350750.2:c.1915G>A	NP_001337679.1:p.Asp639Asn
NM_001350751.2:c.1915G>A	NP_001337680.1:p.Asp639Asn