Canonical Allele Identifier: CA388669129
Community Standard Title: NM_052867.4(NALCN):c.3050T>G (p.Ile1017Ser)
Gene: NALCN HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.3050T>G MANE Select NP_443099.1:p.Ile1017Ser
ENST00000251127.11:c.3050T>G MANE Select ENSP00000251127.6:p.Ile1017Ser
NM_001350748.1:c.3137T>G NP_001337677.1:p.Ile1046Ser
NM_001350748.2:c.3137T>G NP_001337677.1:p.Ile1046Ser
NM_001350749.1:c.3050T>G NP_001337678.1:p.Ile1017Ser
NM_001350749.2:c.3050T>G NP_001337678.1:p.Ile1017Ser
NM_001350750.1:c.2963T>G NP_001337679.1:p.Ile988Ser
NM_001350750.2:c.2963T>G NP_001337679.1:p.Ile988Ser
NM_001350751.1:c.2963T>G NP_001337680.1:p.Ile988Ser
NM_001350751.2:c.2963T>G NP_001337680.1:p.Ile988Ser
NM_052867.2:c.3050T>G NP_443099.1:p.Ile1017Ser
NM_052867.3:c.3050T>G NP_443099.1:p.Ile1017Ser
ENST00000251127.10:c.3050T>G ENSP00000251127.6:p.Ile1017Ser
ENST00000648359.1:c.3050T>G ENSP00000497465.1:p.Ile1017Ser
ENST00000675150.1:c.2771T>G ENSP00000502680.1:p.Ile924Ser
ENST00000675332.1:c.3137T>G ENSP00000501955.1:p.Ile1046Ser
ENST00000676315.1:c.2963T>G ENSP00000501603.1:p.Ile988Ser
XM_011521067.1:c.3107T>G XP_011519369.1:p.Ile1036Ser
XM_011521067.2:c.3107T>G XP_011519369.1:p.Ile1036Ser
XM_011521068.1:c.3050T>G XP_011519370.1:p.Ile1017Ser
XM_011521069.1:c.3020T>G XP_011519371.1:p.Ile1007Ser
XM_011521069.2:c.3020T>G XP_011519371.1:p.Ile1007Ser
XM_011521070.1:c.2828T>G XP_011519372.1:p.Ile943Ser
XM_017020536.2:c.2603T>G XP_016876025.1:p.Ile868Ser
XM_017020537.1:c.2285T>G XP_016876026.1:p.Ile762Ser
XM_024449336.1:c.3194T>G XP_024305104.1:p.Ile1065Ser