Canonical Allele Identifier: CA404324011

Gene: NACC1

Linked Data

• MyVariant Identifiers: chr19:g.13246068T>C (hg19) ; chr19:g.13135254T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13135254T>C , CM000681.2:g.13135254T>C	GRCh38
NC_000019.9:g.13246068T>C , CM000681.1:g.13246068T>C	GRCh37
NC_000019.8:g.13107068T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586171.3:c.47T>C	ENSP00000467120.2:p.Ile16Thr
ENST00000700232.1:c.47T>C	ENSP00000514870.1:p.Ile16Thr
ENST00000292431.5:c.47T>C MANE Select	ENSP00000292431.3:p.Ile16Thr
ENST00000586171.2:c.47T>C	ENSP00000467120.1:p.Ile16Thr
ENST00000292431.4:c.47T>C	ENSP00000292431.3:p.Ile16Thr
ENST00000586171.1:c.47T>C	ENSP00000467120.1:p.Ile16Thr
NM_052876.3:c.47T>C	NP_443108.1:p.Ile16Thr
XM_005259721.2:c.47T>C	XP_005259778.1:p.Ile16Thr
XM_005259721.3:c.47T>C	XP_005259778.1:p.Ile16Thr
NM_052876.4:c.47T>C MANE Select	NP_443108.1:p.Ile16Thr