Canonical Allele Identifier: CA404326095

Gene: NACC1

Linked Data

• dbSNP Id: rs756880593
• gnomAD v2: 19-13246772-G-A
• gnomAD v4: 19-13135958-G-A
• MyVariant Identifiers: chr19:g.13246772G>A (hg19) ; chr19:g.13135958G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13135958G>A , CM000681.2:g.13135958G>A	GRCh38
NC_000019.9:g.13246772G>A , CM000681.1:g.13246772G>A	GRCh37
NC_000019.8:g.13107772G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586171.3:c.751G>A	ENSP00000467120.2:p.Gly251Ser
ENST00000700232.1:c.751G>A	ENSP00000514870.1:p.Gly251Ser
ENST00000292431.5:c.751G>A MANE Select	ENSP00000292431.3:p.Gly251Ser
ENST00000292431.4:c.751G>A	ENSP00000292431.3:p.Gly251Ser
NM_052876.3:c.751G>A	NP_443108.1:p.Gly251Ser
XM_005259721.2:c.751G>A	XP_005259778.1:p.Gly251Ser
XM_005259721.3:c.751G>A	XP_005259778.1:p.Gly251Ser
NM_052876.4:c.751G>A MANE Select	NP_443108.1:p.Gly251Ser