Canonical Allele Identifier: CA1869902964
Community Standard Title: NM_018376.4(NIPSNAP3B):c.430+654C=
Gene: NIPSNAP3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104769675C= , CM000671.2:g.104769675C= GRCh38
NC_000009.11:g.107531956C= , CM000671.1:g.107531956C= GRCh37
NC_000009.10:g.106571777C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_018376.4:c.430+654C= MANE Select NP_060846.2:n.430+654C=
ENST00000374762.4:c.430+654C= MANE Select ENSP00000363894.3:n.430+654C=
NM_018376.3:c.430+654C= NP_060846.2:n.430+654C=
NR_130759.1:n.719+654C=
NR_130759.2:n.331+654C=
NR_130760.1:n.930+654C=
NR_130760.2:n.542+654C=
ENST00000374762.3:c.430+654C= ENSP00000363894.3:n.430+654C=
ENST00000460936.5:c.430+654C= ENSP00000435209.1:n.430+654C=
ENST00000461177.1:n.265+654C=
XM_011518839.1:c.430+654C= XP_011517141.1:n.430+654C=
XR_001746344.1:n.930+654C=
XR_001746345.1:n.930+654C=
XR_428532.1:n.930+654C=