Canonical Allele Identifier: CA1259093741
Community Standard Title: NM_001002755.4(NFU1):c.622G= (p.Gly208=)
Gene: NFU1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.69400462C= , CM000664.2:g.69400462C= GRCh38
NC_000002.11:g.69627594C= , CM000664.1:g.69627594C= GRCh37
NC_000002.10:g.69481098C= NCBI36
NG_031931.1:g.42167G=

Transcript Alleles

HGVS Amino-acid Change
NM_001002755.4:c.622G= MANE Select NP_001002755.1:p.Gly208=
ENST00000410022.7:c.622G= MANE Select ENSP00000387219.3:p.Gly208=
NM_001002755.2:c.622G= NP_001002755.1:p.Gly208=
NM_001002756.2:c.199G= NP_001002756.1:p.Gly67=
NM_001374284.1:c.550G= NP_001361213.1:p.Gly184=
NM_015700.3:c.550G= NP_056515.2:p.Gly184=
NM_015700.4:c.550G= NP_056515.2:p.Gly184=
NR_045631.1:n.692G=
NR_045631.2:n.499G=
NR_045632.1:n.616-4172G=
NR_045632.2:n.423-4172G=
ENST00000303698.7:c.550G= ENSP00000306965.3:p.Gly184=
ENST00000394305.5:c.199G= ENSP00000377842.1:p.Gly67=
ENST00000410022.6:c.622G= ENSP00000387219.2:p.Gly208=
ENST00000450796.6:c.199G= ENSP00000415102.2:p.Gly67=
ENST00000462320.5:c.199G= ENSP00000418598.1:p.Gly67=
ENST00000471185.5:n.423-4172G=
ENST00000474230.5:c.253G= ENSP00000418882.1:p.Gly85=
ENST00000484177.5:c.199G= ENSP00000417693.1:p.Gly67=
XM_017003808.2:c.550G= XP_016859297.1:p.Gly184=