Canonical Allele Identifier: CA488751804
Gene: NIPA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.23086388C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786680G>C , CM000677.2:g.22786680G>C GRCh38
NC_000015.9:g.23086388C>G , CM000677.1:g.23086388C>G GRCh37
NC_000015.8:g.20637829C>G NCBI36
NG_009056.1:g.5456G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.24G>C MANE Select ENSP00000337452.4:p.Ala8=
ENST00000337435.8:c.24G>C ENSP00000337452.4:p.Ala8=
ENST00000437912.6:c.-48+12367G>C ENSP00000393962.2:n.-48+12367G>C
ENST00000560069.5:n.31+432G>C
ENST00000561183.5:c.-48+432G>C ENSP00000453722.1:n.-48+432G>C
NM_001142275.1:c.-48+432G>C NP_001135747.1:n.-48+432G>C
NM_144599.4:c.24G>C NP_653200.2:p.Ala8=
NM_144599.5:c.24G>C MANE Select NP_653200.2:p.Ala8=