Canonical Allele Identifier: CA7035689
Community Standard Title: NM_052867.4(NALCN):c.2495A>G (p.Tyr832Cys)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101107571T>C , CM000675.2:g.101107571T>C GRCh38
NC_000013.10:g.101759922T>C , CM000675.1:g.101759922T>C GRCh37
NC_000013.9:g.100557923T>C NCBI36
NG_053176.1:g.314636A>G

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.2495A>G MANE Select NP_443099.1:p.Tyr832Cys
ENST00000251127.11:c.2495A>G MANE Select ENSP00000251127.6:p.Tyr832Cys
NM_001350748.1:c.2582A>G NP_001337677.1:p.Tyr861Cys
NM_001350748.2:c.2582A>G NP_001337677.1:p.Tyr861Cys
NM_001350749.1:c.2495A>G NP_001337678.1:p.Tyr832Cys
NM_001350749.2:c.2495A>G NP_001337678.1:p.Tyr832Cys
NM_001350750.1:c.2408A>G NP_001337679.1:p.Tyr803Cys
NM_001350750.2:c.2408A>G NP_001337679.1:p.Tyr803Cys
NM_001350751.1:c.2408A>G NP_001337680.1:p.Tyr803Cys
NM_001350751.2:c.2408A>G NP_001337680.1:p.Tyr803Cys
NM_052867.2:c.2495A>G NP_443099.1:p.Tyr832Cys
NM_052867.3:c.2495A>G NP_443099.1:p.Tyr832Cys
ENST00000251127.10:c.2495A>G ENSP00000251127.6:p.Tyr832Cys
ENST00000648359.1:c.2495A>G ENSP00000497465.1:p.Tyr832Cys
ENST00000675150.1:c.2216A>G ENSP00000502680.1:p.Tyr739Cys
ENST00000675332.1:c.2582A>G ENSP00000501955.1:p.Tyr861Cys
ENST00000676315.1:c.2408A>G ENSP00000501603.1:p.Tyr803Cys
XM_011521067.1:c.2552A>G XP_011519369.1:p.Tyr851Cys
XM_011521067.2:c.2552A>G XP_011519369.1:p.Tyr851Cys
XM_011521068.1:c.2495A>G XP_011519370.1:p.Tyr832Cys
XM_011521069.1:c.2465A>G XP_011519371.1:p.Tyr822Cys
XM_011521069.2:c.2465A>G XP_011519371.1:p.Tyr822Cys
XM_011521070.1:c.2273A>G XP_011519372.1:p.Tyr758Cys
XM_017020536.2:c.2048A>G XP_016876025.1:p.Tyr683Cys
XM_017020537.1:c.1730A>G XP_016876026.1:p.Tyr577Cys
XM_024449336.1:c.2639A>G XP_024305104.1:p.Tyr880Cys