Canonical Allele Identifier: CA404325552
Gene: NACC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13135730T>G , CM000681.2:g.13135730T>G GRCh38
NC_000019.9:g.13246544T>G , CM000681.1:g.13246544T>G GRCh37
NC_000019.8:g.13107544T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000586171.3:c.523T>G ENSP00000467120.2:p.Ser175Ala
ENST00000700232.1:c.523T>G ENSP00000514870.1:p.Ser175Ala
ENST00000292431.5:c.523T>G MANE Select ENSP00000292431.3:p.Ser175Ala
ENST00000292431.4:c.523T>G ENSP00000292431.3:p.Ser175Ala
NM_052876.3:c.523T>G NP_443108.1:p.Ser175Ala
XM_005259721.2:c.523T>G XP_005259778.1:p.Ser175Ala
XM_005259721.3:c.523T>G XP_005259778.1:p.Ser175Ala
NM_052876.4:c.523T>G MANE Select NP_443108.1:p.Ser175Ala