Canonical Allele Identifier: CA404325489
Gene: NACC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13135703G>T , CM000681.2:g.13135703G>T GRCh38
NC_000019.9:g.13246517G>T , CM000681.1:g.13246517G>T GRCh37
NC_000019.8:g.13107517G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000586171.3:c.496G>T ENSP00000467120.2:p.Val166Leu
ENST00000700232.1:c.496G>T ENSP00000514870.1:p.Val166Leu
ENST00000292431.5:c.496G>T MANE Select ENSP00000292431.3:p.Val166Leu
ENST00000586171.2:c.496G>T
ENST00000292431.4:c.496G>T ENSP00000292431.3:p.Val166Leu
ENST00000586171.1:c.496G>T
NM_052876.3:c.496G>T NP_443108.1:p.Val166Leu
XM_005259721.2:c.496G>T XP_005259778.1:p.Val166Leu
XM_005259721.3:c.496G>T XP_005259778.1:p.Val166Leu
NM_052876.4:c.496G>T MANE Select NP_443108.1:p.Val166Leu