Canonical Allele Identifier: CA404325677

Gene: NACC1

Linked Data

• dbSNP Id: rs1211436680
• gnomAD v2: 19-13246599-C-T
• MyVariant Identifiers: chr19:g.13246599C>T (hg19) ; chr19:g.13135785C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13135785C>T , CM000681.2:g.13135785C>T	GRCh38
NC_000019.9:g.13246599C>T , CM000681.1:g.13246599C>T	GRCh37
NC_000019.8:g.13107599C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586171.3:c.578C>T	ENSP00000467120.2:p.Ala193Val
ENST00000700232.1:c.578C>T	ENSP00000514870.1:p.Ala193Val
ENST00000292431.5:c.578C>T MANE Select	ENSP00000292431.3:p.Ala193Val
ENST00000292431.4:c.578C>T	ENSP00000292431.3:p.Ala193Val
NM_052876.3:c.578C>T	NP_443108.1:p.Ala193Val
XM_005259721.2:c.578C>T	XP_005259778.1:p.Ala193Val
XM_005259721.3:c.578C>T	XP_005259778.1:p.Ala193Val
NM_052876.4:c.578C>T MANE Select	NP_443108.1:p.Ala193Val