Canonical Allele Identifier: CA2114392236
Community Standard Title: NM_052867.4(NALCN):c.3390G= (p.Pro1130=)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101089846C= , CM000675.2:g.101089846C= GRCh38
NC_000013.10:g.101742197C= , CM000675.1:g.101742197C= GRCh37
NC_000013.9:g.100540198C= NCBI36
NG_053176.1:g.332361G=

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.3390G= MANE Select NP_443099.1:p.Pro1130=
ENST00000251127.11:c.3390G= MANE Select ENSP00000251127.6:p.Pro1130=
NM_001350748.1:c.3477G= NP_001337677.1:p.Pro1159=
NM_001350748.2:c.3477G= NP_001337677.1:p.Pro1159=
NM_001350749.1:c.3390G= NP_001337678.1:p.Pro1130=
NM_001350749.2:c.3390G= NP_001337678.1:p.Pro1130=
NM_001350750.1:c.3303G= NP_001337679.1:p.Pro1101=
NM_001350750.2:c.3303G= NP_001337679.1:p.Pro1101=
NM_001350751.1:c.3303G= NP_001337680.1:p.Pro1101=
NM_001350751.2:c.3303G= NP_001337680.1:p.Pro1101=
NM_052867.2:c.3390G= NP_443099.1:p.Pro1130=
NM_052867.3:c.3390G= NP_443099.1:p.Pro1130=
ENST00000251127.10:c.3390G= ENSP00000251127.6:p.Pro1130=
ENST00000648359.1:c.3390G= ENSP00000497465.1:p.Pro1130=
ENST00000675150.1:c.3111G= ENSP00000502680.1:p.Pro1037=
ENST00000675332.1:c.3477G= ENSP00000501955.1:p.Pro1159=
ENST00000676315.1:c.3303G= ENSP00000501603.1:p.Pro1101=
XM_011521067.1:c.3447G= XP_011519369.1:p.Pro1149=
XM_011521067.2:c.3447G= XP_011519369.1:p.Pro1149=
XM_011521068.1:c.3390G= XP_011519370.1:p.Pro1130=
XM_011521069.1:c.3360G= XP_011519371.1:p.Pro1120=
XM_011521069.2:c.3360G= XP_011519371.1:p.Pro1120=
XM_011521070.1:c.3168G= XP_011519372.1:p.Pro1056=
XM_017020536.2:c.2943G= XP_016876025.1:p.Pro981=
XM_017020537.1:c.2625G= XP_016876026.1:p.Pro875=
XM_024449336.1:c.3534G= XP_024305104.1:p.Pro1178=