Canonical Allele Identifier: CA5128917
Gene: NINJ1 HGNC NCBI

Linked Data

dbSNP Id: rs2275848
gnomAD v2: 9-95887320-G-T
gnomAD v3: 9-93125038-G-T
gnomAD v4: 9-93125038-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.93125038G>T , CM000671.2:g.93125038G>T GRCh38
NC_000009.11:g.95887320G>T , CM000671.1:g.95887320G>T GRCh37
NC_000009.10:g.94927141G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375446.5:c.329C>A MANE Select ENSP00000364595.4:p.Ala110Asp
ENST00000375446.4:c.329C>A ENSP00000364595.4:p.Ala110Asp
ENST00000461162.5:n.388C>A
ENST00000470314.5:n.297C>A
ENST00000489274.1:n.1153C>A
NM_004148.3:c.329C>A NP_004139.2:p.Ala110Asp
XM_011518716.1:c.179C>A XP_011517018.1:p.Ala60Asp
NM_004148.4:c.329C>A MANE Select NP_004139.2:p.Ala110Asp