Canonical Allele Identifier: CA404327301
Gene: NACC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13136291G>C , CM000681.2:g.13136291G>C GRCh38
NC_000019.9:g.13247105G>C , CM000681.1:g.13247105G>C GRCh37
NC_000019.8:g.13108105G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000586171.3:c.1006G>C ENSP00000467120.2:p.Val336Leu
ENST00000700232.1:c.1006G>C ENSP00000514870.1:p.Val336Leu
ENST00000292431.5:c.1006G>C MANE Select ENSP00000292431.3:p.Val336Leu
ENST00000292431.4:c.1006G>C ENSP00000292431.3:p.Val336Leu
NM_052876.3:c.1006G>C NP_443108.1:p.Val336Leu
XM_005259721.2:c.1006G>C XP_005259778.1:p.Val336Leu
XM_005259721.3:c.1006G>C XP_005259778.1:p.Val336Leu
NM_052876.4:c.1006G>C MANE Select NP_443108.1:p.Val336Leu