Canonical Allele Identifier: CA2505043322

Gene: NIPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22825294A>G , CM000677.2:g.22825294A>G	GRCh38
NC_000015.9:g.23047774T>C , CM000677.1:g.23047774T>C	GRCh37
NC_000015.8:g.20599215T>C	NCBI36
NG_009056.1:g.44070A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.*1055A>G MANE Select	ENSP00000337452.4:n.*1055A>G
ENST00000337435.8:c.*1055A>G	ENSP00000337452.4:n.*1055A>G
ENST00000437912.6:c.*1055A>G	ENSP00000393962.2:n.*1055A>G
ENST00000559448.5:c.2017A>G
NM_001142275.1:c.*1055A>G	NP_001135747.1:n.*1055A>G
NM_144599.4:c.*1055A>G	NP_653200.2:n.*1055A>G
NM_144599.5:c.*1055A>G MANE Select	NP_653200.2:n.*1055A>G