Canonical Allele Identifier: CA404325460
Gene: NACC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13135686T>A , CM000681.2:g.13135686T>A GRCh38
NC_000019.9:g.13246500T>A , CM000681.1:g.13246500T>A GRCh37
NC_000019.8:g.13107500T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000586171.3:c.479T>A ENSP00000467120.2:p.Leu160Gln
ENST00000700232.1:c.479T>A ENSP00000514870.1:p.Leu160Gln
ENST00000292431.5:c.479T>A MANE Select ENSP00000292431.3:p.Leu160Gln
ENST00000586171.2:c.479T>A ENSP00000467120.1:p.Leu160Gln
ENST00000292431.4:c.479T>A ENSP00000292431.3:p.Leu160Gln
ENST00000586171.1:c.479T>A ENSP00000467120.1:p.Leu160Gln
NM_052876.3:c.479T>A NP_443108.1:p.Leu160Gln
XM_005259721.2:c.479T>A XP_005259778.1:p.Leu160Gln
XM_005259721.3:c.479T>A XP_005259778.1:p.Leu160Gln
NM_052876.4:c.479T>A MANE Select NP_443108.1:p.Leu160Gln