Canonical Allele Identifier: CA404327166
Gene: NACC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1938722
ClinVar RCV Id: RCV002646492
dbSNP Id: rs1253012352

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13136253C>T , CM000681.2:g.13136253C>T GRCh38
NC_000019.9:g.13247067C>T , CM000681.1:g.13247067C>T GRCh37
NC_000019.8:g.13108067C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000586171.3:c.968C>T ENSP00000467120.2:p.Pro323Leu
ENST00000700232.1:c.968C>T ENSP00000514870.1:p.Pro323Leu
ENST00000292431.5:c.968C>T MANE Select ENSP00000292431.3:p.Pro323Leu
ENST00000292431.4:c.968C>T ENSP00000292431.3:p.Pro323Leu
NM_052876.3:c.968C>T NP_443108.1:p.Pro323Leu
XM_005259721.2:c.968C>T XP_005259778.1:p.Pro323Leu
XM_005259721.3:c.968C>T XP_005259778.1:p.Pro323Leu
NM_052876.4:c.968C>T MANE Select NP_443108.1:p.Pro323Leu