Canonical Allele Identifier: CA2580597571

Gene: NIPSNAP3B

Genomic Alleles

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

Transcript Alleles

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