Canonical Allele Identifier: CA505782559

Gene: NACC1

Linked Data

• dbSNP Id: rs1599997738
• gnomAD v4: 19-13135324-T-C
• MyVariant Identifiers: chr19:g.13246138T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13135324T>C , CM000681.2:g.13135324T>C	GRCh38
NC_000019.9:g.13246138T>C , CM000681.1:g.13246138T>C	GRCh37
NC_000019.8:g.13107138T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586171.3:c.117T>C	ENSP00000467120.2:p.His39=
ENST00000700232.1:c.117T>C	ENSP00000514870.1:p.His39=
ENST00000292431.5:c.117T>C MANE Select	ENSP00000292431.3:p.His39=
ENST00000586171.2:c.117T>C	ENSP00000467120.1:p.His39=
ENST00000292431.4:c.117T>C	ENSP00000292431.3:p.His39=
ENST00000586171.1:c.117T>C	ENSP00000467120.1:p.His39=
NM_052876.3:c.117T>C	NP_443108.1:p.His39=
XM_005259721.2:c.117T>C	XP_005259778.1:p.His39=
XM_005259721.3:c.117T>C	XP_005259778.1:p.His39=
NM_052876.4:c.117T>C MANE Select	NP_443108.1:p.His39=