Canonical Allele Identifier: CA7035156
Community Standard Title: NM_052867.4(NALCN):c.4330+5G>A
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101068690C>T , CM000675.2:g.101068690C>T GRCh38
NC_000013.10:g.101721042C>T , CM000675.1:g.101721042C>T GRCh37
NC_000013.9:g.100519043C>T NCBI36
NG_053176.1:g.353517G>A

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.4330+5G>A MANE Select NP_443099.1:n.4330+5G>A
ENST00000251127.11:c.4330+5G>A MANE Select ENSP00000251127.6:n.4330+5G>A
NM_001350748.1:c.4417+5G>A NP_001337677.1:n.4417+5G>A
NM_001350748.2:c.4417+5G>A NP_001337677.1:n.4417+5G>A
NM_001350749.1:c.4330+5G>A NP_001337678.1:n.4330+5G>A
NM_001350749.2:c.4330+5G>A NP_001337678.1:n.4330+5G>A
NM_001350750.1:c.4243+5G>A NP_001337679.1:n.4243+5G>A
NM_001350750.2:c.4243+5G>A NP_001337679.1:n.4243+5G>A
NM_001350751.1:c.4243+5G>A NP_001337680.1:n.4243+5G>A
NM_001350751.2:c.4243+5G>A NP_001337680.1:n.4243+5G>A
NM_052867.2:c.4330+5G>A NP_443099.1:n.4330+5G>A
NM_052867.3:c.4330+5G>A NP_443099.1:n.4330+5G>A
ENST00000251127.10:c.4330+5G>A ENSP00000251127.6:n.4330+5G>A
ENST00000648359.1:c.4330+5G>A ENSP00000497465.1:n.4330+5G>A
ENST00000675150.1:c.4051+5G>A ENSP00000502680.1:n.4051+5G>A
ENST00000675332.1:c.4417+5G>A ENSP00000501955.1:n.4417+5G>A
ENST00000676315.1:c.4243+5G>A ENSP00000501603.1:n.4243+5G>A
XM_011521067.1:c.4387+5G>A XP_011519369.1:n.4387+5G>A
XM_011521067.2:c.4387+5G>A XP_011519369.1:n.4387+5G>A
XM_011521068.1:c.4330+5G>A XP_011519370.1:n.4330+5G>A
XM_011521069.1:c.4300+5G>A XP_011519371.1:n.4300+5G>A
XM_011521069.2:c.4300+5G>A XP_011519371.1:n.4300+5G>A
XM_011521070.1:c.4108+5G>A XP_011519372.1:n.4108+5G>A
XM_017020536.2:c.3883+5G>A XP_016876025.1:n.3883+5G>A
XM_017020537.1:c.3565+5G>A XP_016876026.1:n.3565+5G>A
XM_024449336.1:c.4474+5G>A XP_024305104.1:n.4474+5G>A