Canonical Allele Identifier: CA382816661
Gene: ARCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118597720G>A , CM000673.2:g.118597720G>A GRCh38
NC_000011.9:g.118468435G>A , CM000673.1:g.118468435G>A GRCh37
NC_000011.8:g.117973645G>A NCBI36
NG_051953.1:g.30334G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264028.5:c.1255G>A MANE Select ENSP00000264028.4:p.Ala419Thr
ENST00000264028.4:c.1255G>A ENSP00000264028.4:p.Ala419Thr
ENST00000359415.8:c.1378G>A ENSP00000352385.4:p.Ala460Thr
ENST00000392859.7:c.991G>A ENSP00000376599.3:p.Ala331Thr
ENST00000534182.2:c.160-3916G>A ENSP00000431676.1:n.160-3916G>A
ENST00000614498.4:c.509-3602G>A ENSP00000482114.1:n.509-3602G>A
NM_001142281.1:c.991G>A NP_001135753.1:p.Ala331Thr
NM_001655.4:c.1255G>A NP_001646.2:p.Ala419Thr
XM_005271542.2:c.1242-2905G>A XP_005271599.1:n.1242-2905G>A
XM_005271542.4:c.1242-2905G>A XP_005271599.1:n.1242-2905G>A
NM_001655.5:c.1255G>A MANE Select NP_001646.2:p.Ala419Thr
NM_001142281.2:c.991G>A NP_001135753.1:p.Ala331Thr