Canonical Allele Identifier: CA404325838
Gene: NACC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13135862C>T , CM000681.2:g.13135862C>T GRCh38
NC_000019.9:g.13246676C>T , CM000681.1:g.13246676C>T GRCh37
NC_000019.8:g.13107676C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000586171.3:c.655C>T ENSP00000467120.2:p.Pro219Ser
ENST00000700232.1:c.655C>T ENSP00000514870.1:p.Pro219Ser
ENST00000292431.5:c.655C>T MANE Select ENSP00000292431.3:p.Pro219Ser
ENST00000292431.4:c.655C>T ENSP00000292431.3:p.Pro219Ser
NM_052876.3:c.655C>T NP_443108.1:p.Pro219Ser
XM_005259721.2:c.655C>T XP_005259778.1:p.Pro219Ser
XM_005259721.3:c.655C>T XP_005259778.1:p.Pro219Ser
NM_052876.4:c.655C>T MANE Select NP_443108.1:p.Pro219Ser