Canonical Allele Identifier: CA404324095

Gene: NACC1

Linked Data

• dbSNP Id: rs1255089311
• gnomAD v2: 19-13246086-A-C
• gnomAD v4: 19-13135272-A-C
• MyVariant Identifiers: chr19:g.13246086A>C (hg19) ; chr19:g.13135272A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13135272A>C , CM000681.2:g.13135272A>C	GRCh38
NC_000019.9:g.13246086A>C , CM000681.1:g.13246086A>C	GRCh37
NC_000019.8:g.13107086A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586171.3:c.65A>C	ENSP00000467120.2:p.Glu22Ala
ENST00000700232.1:c.65A>C	ENSP00000514870.1:p.Glu22Ala
ENST00000292431.5:c.65A>C MANE Select	ENSP00000292431.3:p.Glu22Ala
ENST00000586171.2:c.65A>C	ENSP00000467120.1:p.Glu22Ala
ENST00000292431.4:c.65A>C	ENSP00000292431.3:p.Glu22Ala
ENST00000586171.1:c.65A>C	ENSP00000467120.1:p.Glu22Ala
NM_052876.3:c.65A>C	NP_443108.1:p.Glu22Ala
XM_005259721.2:c.65A>C	XP_005259778.1:p.Glu22Ala
XM_005259721.3:c.65A>C	XP_005259778.1:p.Glu22Ala
NM_052876.4:c.65A>C MANE Select	NP_443108.1:p.Glu22Ala