Canonical Allele Identifier: CA2114398031
Community Standard Title: NM_052867.4(NALCN):c.3050T= (p.Ile1017=)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101103179A= , CM000675.2:g.101103179A= GRCh38
NC_000013.10:g.101755530A= , CM000675.1:g.101755530A= GRCh37
NC_000013.9:g.100553531A= NCBI36
NG_053176.1:g.319028T=

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.3050T= MANE Select NP_443099.1:p.Ile1017=
ENST00000251127.11:c.3050T= MANE Select ENSP00000251127.6:p.Ile1017=
NM_001350748.1:c.3137T= NP_001337677.1:p.Ile1046=
NM_001350748.2:c.3137T= NP_001337677.1:p.Ile1046=
NM_001350749.1:c.3050T= NP_001337678.1:p.Ile1017=
NM_001350749.2:c.3050T= NP_001337678.1:p.Ile1017=
NM_001350750.1:c.2963T= NP_001337679.1:p.Ile988=
NM_001350750.2:c.2963T= NP_001337679.1:p.Ile988=
NM_001350751.1:c.2963T= NP_001337680.1:p.Ile988=
NM_001350751.2:c.2963T= NP_001337680.1:p.Ile988=
NM_052867.2:c.3050T= NP_443099.1:p.Ile1017=
NM_052867.3:c.3050T= NP_443099.1:p.Ile1017=
ENST00000251127.10:c.3050T= ENSP00000251127.6:p.Ile1017=
ENST00000648359.1:c.3050T= ENSP00000497465.1:p.Ile1017=
ENST00000675150.1:c.2771T= ENSP00000502680.1:p.Ile924=
ENST00000675332.1:c.3137T= ENSP00000501955.1:p.Ile1046=
ENST00000676315.1:c.2963T= ENSP00000501603.1:p.Ile988=
XM_011521067.1:c.3107T= XP_011519369.1:p.Ile1036=
XM_011521067.2:c.3107T= XP_011519369.1:p.Ile1036=
XM_011521068.1:c.3050T= XP_011519370.1:p.Ile1017=
XM_011521069.1:c.3020T= XP_011519371.1:p.Ile1007=
XM_011521069.2:c.3020T= XP_011519371.1:p.Ile1007=
XM_011521070.1:c.2828T= XP_011519372.1:p.Ile943=
XM_017020536.2:c.2603T= XP_016876025.1:p.Ile868=
XM_017020537.1:c.2285T= XP_016876026.1:p.Ile762=
XM_024449336.1:c.3194T= XP_024305104.1:p.Ile1065=