Canonical Allele Identifier: CA7426062
Community Standard Title: NM_144599.5(NIPA1):c.479-7G>T
Gene: NIPA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22823721G>T , CM000677.2:g.22823721G>T GRCh38
NC_000015.9:g.23049347C>A , CM000677.1:g.23049347C>A GRCh37
NC_000015.8:g.20600788C>A NCBI36
NG_009056.1:g.42497G>T

Transcript Alleles

HGVS Amino-acid Change
NM_144599.5:c.479-7G>T MANE Select NP_653200.2:n.479-7G>T
ENST00000337435.9:c.479-7G>T MANE Select ENSP00000337452.4:n.479-7G>T
NM_001142275.1:c.254-7G>T NP_001135747.1:n.254-7G>T
NM_144599.4:c.479-7G>T NP_653200.2:n.479-7G>T
ENST00000337435.8:c.479-7G>T ENSP00000337452.4:n.479-7G>T
ENST00000437912.6:c.254-7G>T ENSP00000393962.2:n.254-7G>T
ENST00000557930.1:c.394-7G>T ENSP00000453797.1:n.394-7G>T
ENST00000559448.5:c.451-7G>T
ENST00000560069.5:n.532-7G>T
ENST00000561183.5:c.254-7G>T ENSP00000453722.1:n.254-7G>T