Canonical Allele Identifier: CA130174
Gene: NSMF HGNC NCBI

Linked Data

ClinVar Variation Id: 2524
ClinVar RCV Id: RCV000030872
dbSNP Id: rs121918340

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137449656T>C , CM000671.2:g.137449656T>C GRCh38
NC_000009.11:g.140344108T>C , CM000671.1:g.140344108T>C GRCh37
NC_000009.10:g.139463929T>C NCBI36
NG_021362.1:g.14679A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265663.12:c.1432A>G ENSP00000265663.7:p.Thr478Ala
ENST00000371475.9:c.1438A>G MANE Select ENSP00000360530.3:p.Thr480Ala
ENST00000265663.11:c.1432A>G ENSP00000265663.7:p.Thr478Ala
ENST00000339554.7:c.829A>G ENSP00000342966.3:p.Thr277Ala
ENST00000371472.6:c.1432A>G ENSP00000360527.1:p.Thr478Ala
ENST00000371473.7:c.1348A>G ENSP00000360528.3:p.Thr450Ala
ENST00000371474.7:c.1363A>G ENSP00000360529.3:p.Thr455Ala
ENST00000371475.7:c.1438A>G ENSP00000360530.3:p.Thr480Ala
ENST00000371482.5:c.430A>G ENSP00000360537.1:p.Thr144Ala
ENST00000437259.5:c.1369A>G ENSP00000412007.1:p.Thr457Ala
ENST00000484316.5:n.884A>G
NM_001130969.1:c.1438A>G NP_001124441.1:p.Thr480Ala
NM_001130970.1:c.1369A>G NP_001124442.1:p.Thr457Ala
NM_001130971.1:c.1363A>G NP_001124443.1:p.Thr455Ala
NM_001178064.1:c.1348A>G NP_001171535.1:p.Thr450Ala
NM_015537.4:c.1432A>G NP_056352.3:p.Thr478Ala
XM_005266061.3:c.1342A>G XP_005266118.1:p.Thr448Ala
XM_005266062.3:c.1273A>G XP_005266119.1:p.Thr425Ala
XM_011518496.1:c.1279A>G XP_011516798.1:p.Thr427Ala
XM_011518497.1:c.637A>G XP_011516799.1:p.Thr213Ala
XM_005266061.5:c.1342A>G XP_005266118.1:p.Thr448Ala
XM_005266062.5:c.1273A>G XP_005266119.1:p.Thr425Ala
XM_011518496.3:c.1279A>G XP_011516798.1:p.Thr427Ala
XM_011518497.2:c.637A>G XP_011516799.1:p.Thr213Ala
XM_017014597.2:c.910A>G XP_016870086.1:p.Thr304Ala
NM_001130969.3:c.1438A>G MANE Select NP_001124441.1:p.Thr480Ala
NM_001130970.2:c.1369A>G NP_001124442.1:p.Thr457Ala
NM_001130971.2:c.1363A>G NP_001124443.1:p.Thr455Ala
NM_001178064.2:c.1348A>G NP_001171535.1:p.Thr450Ala
NM_015537.5:c.1432A>G NP_056352.3:p.Thr478Ala