Canonical Allele Identifier: CA995902098

Gene: NUMBL

Linked Data

• dbSNP Id: rs2081908876
• gnomAD v3: 19-40682271-T-A
• gnomAD v4: 19-40682271-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40682271T>A , CM000681.2:g.40682271T>A	GRCh38
NC_000019.9:g.41188176T>A , CM000681.1:g.41188176T>A	GRCh37
NC_000019.8:g.45880016T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000252891.8:c.399+457A>T MANE Select	ENSP00000252891.3:n.399+457A>T
ENST00000540131.5:c.276+457A>T	ENSP00000442759.1:n.276+457A>T
ENST00000593367.1:n.128+457A>T
ENST00000595741.5:c.276+457A>T	ENSP00000470794.1:n.276+457A>T
ENST00000598773.5:c.276+457A>T	ENSP00000469736.1:n.276+457A>T
ENST00000598779.5:c.276+457A>T	ENSP00000472400.1:n.276+457A>T
ENST00000599786.1:n.689+457A>T
ENST00000600636.5:c.276+457A>T	ENSP00000471376.1:n.276+457A>T
ENST00000600967.5:c.106+457A>T
NM_001289979.1:c.276+457A>T	NP_001276908.1:n.276+457A>T
NM_001289980.1:c.276+457A>T	NP_001276909.1:n.276+457A>T
NM_004756.4:c.399+457A>T	NP_004747.1:n.399+457A>T
XM_011527489.1:c.276+457A>T	XP_011525791.1:n.276+457A>T
XM_011527490.1:c.276+457A>T	XP_011525792.1:n.276+457A>T
XR_935869.1:n.357+457A>T
NM_001289980.2:c.276+457A>T	NP_001276909.1:n.276+457A>T
NM_004756.5:c.399+457A>T MANE Select	NP_004747.1:n.399+457A>T
NM_001289979.2:c.276+457A>T	NP_001276908.1:n.276+457A>T