Canonical Allele Identifier: CA404326927
Gene: NACC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.13246947T>C (hg19) chr19:g.13136133T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13136133T>C , CM000681.2:g.13136133T>C GRCh38
NC_000019.9:g.13246947T>C , CM000681.1:g.13246947T>C GRCh37
NC_000019.8:g.13107947T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000586171.3:c.926T>C ENSP00000467120.2:p.Met309Thr
ENST00000700232.1:c.926T>C ENSP00000514870.1:p.Met309Thr
ENST00000292431.5:c.926T>C MANE Select ENSP00000292431.3:p.Met309Thr
ENST00000292431.4:c.926T>C ENSP00000292431.3:p.Met309Thr
NM_052876.3:c.926T>C NP_443108.1:p.Met309Thr
XM_005259721.2:c.926T>C XP_005259778.1:p.Met309Thr
XM_005259721.3:c.926T>C XP_005259778.1:p.Met309Thr
NM_052876.4:c.926T>C MANE Select NP_443108.1:p.Met309Thr
Search 100 bp 5'
Search 100 bp 3'