Canonical Allele Identifier: CA9238288
Gene: NACC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1399186
dbSNP Id: rs541005316

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13135725C>T , CM000681.2:g.13135725C>T GRCh38
NC_000019.9:g.13246539C>T , CM000681.1:g.13246539C>T GRCh37
NC_000019.8:g.13107539C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000586171.3:c.518C>T ENSP00000467120.2:p.Ser173Leu
ENST00000700232.1:c.518C>T ENSP00000514870.1:p.Ser173Leu
ENST00000292431.5:c.518C>T MANE Select ENSP00000292431.3:p.Ser173Leu
ENST00000292431.4:c.518C>T ENSP00000292431.3:p.Ser173Leu
NM_052876.3:c.518C>T NP_443108.1:p.Ser173Leu
XM_005259721.2:c.518C>T XP_005259778.1:p.Ser173Leu
XM_005259721.3:c.518C>T XP_005259778.1:p.Ser173Leu
NM_052876.4:c.518C>T MANE Select NP_443108.1:p.Ser173Leu