Canonical Allele Identifier: CA404325573
Gene: NACC1 HGNC NCBI

Linked Data

dbSNP Id: rs2019694748

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13135740G>A , CM000681.2:g.13135740G>A GRCh38
NC_000019.9:g.13246554G>A , CM000681.1:g.13246554G>A GRCh37
NC_000019.8:g.13107554G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000586171.3:c.533G>A ENSP00000467120.2:p.Cys178Tyr
ENST00000700232.1:c.533G>A ENSP00000514870.1:p.Cys178Tyr
ENST00000292431.5:c.533G>A MANE Select ENSP00000292431.3:p.Cys178Tyr
ENST00000292431.4:c.533G>A ENSP00000292431.3:p.Cys178Tyr
NM_052876.3:c.533G>A NP_443108.1:p.Cys178Tyr
XM_005259721.2:c.533G>A XP_005259778.1:p.Cys178Tyr
XM_005259721.3:c.533G>A XP_005259778.1:p.Cys178Tyr
NM_052876.4:c.533G>A MANE Select NP_443108.1:p.Cys178Tyr