Canonical Allele Identifier: CA267594982

Gene: NIPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22812451A>G , CM000677.2:g.22812451A>G	GRCh38
NC_000015.9:g.23060617T>C , CM000677.1:g.23060617T>C	GRCh37
NC_000015.8:g.20612058T>C	NCBI36
NG_009056.1:g.31227A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_144599.5:c.317+198A>G MANE Select	NP_653200.2:n.317+198A>G
ENST00000337435.9:c.317+198A>G MANE Select	ENSP00000337452.4:n.317+198A>G
NM_001142275.1:c.92+198A>G	NP_001135747.1:n.92+198A>G
NM_144599.4:c.317+198A>G	NP_653200.2:n.317+198A>G
ENST00000337435.8:c.317+198A>G	ENSP00000337452.4:n.317+198A>G
ENST00000437912.6:c.92+198A>G	ENSP00000393962.2:n.92+198A>G
ENST00000557930.1:c.161+198A>G	ENSP00000453797.1:n.161+198A>G
ENST00000559448.5:c.207+198A>G
ENST00000560069.5:n.170+198A>G
ENST00000561183.5:c.92+198A>G	ENSP00000453722.1:n.92+198A>G