Canonical Allele Identifier: CA404325535
Gene: NACC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13135722A>C , CM000681.2:g.13135722A>C GRCh38
NC_000019.9:g.13246536A>C , CM000681.1:g.13246536A>C GRCh37
NC_000019.8:g.13107536A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000586171.3:c.515A>C ENSP00000467120.2:p.Glu172Ala
ENST00000700232.1:c.515A>C ENSP00000514870.1:p.Glu172Ala
ENST00000292431.5:c.515A>C MANE Select ENSP00000292431.3:p.Glu172Ala
ENST00000292431.4:c.515A>C ENSP00000292431.3:p.Glu172Ala
NM_052876.3:c.515A>C NP_443108.1:p.Glu172Ala
XM_005259721.2:c.515A>C XP_005259778.1:p.Glu172Ala
XM_005259721.3:c.515A>C XP_005259778.1:p.Glu172Ala
NM_052876.4:c.515A>C MANE Select NP_443108.1:p.Glu172Ala