Canonical Allele Identifier: CA2582801138

Gene: NACC1

Linked Data

• gnomAD v4: 19-13135137-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13135137C>T , CM000681.2:g.13135137C>T	GRCh38
NC_000019.9:g.13245951C>T , CM000681.1:g.13245951C>T	GRCh37
NC_000019.8:g.13106951C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586171.3:c.-8-63C>T	ENSP00000467120.2:n.-8-63C>T
ENST00000700232.1:c.-8-63C>T	ENSP00000514870.1:n.-8-63C>T
ENST00000292431.5:c.-8-63C>T MANE Select	ENSP00000292431.3:n.-8-63C>T
ENST00000586171.2:c.-8-63C>T	ENSP00000467120.1:n.-8-63C>T
ENST00000292431.4:c.-8-63C>T	ENSP00000292431.3:n.-8-63C>T
ENST00000586171.1:c.-8-63C>T	ENSP00000467120.1:n.-8-63C>T
NM_052876.3:c.-8-63C>T	NP_443108.1:n.-8-63C>T
XM_005259721.2:c.-8-63C>T	XP_005259778.1:n.-8-63C>T
XM_005259721.3:c.-8-63C>T	XP_005259778.1:n.-8-63C>T
NM_052876.4:c.-8-63C>T MANE Select	NP_443108.1:n.-8-63C>T