Canonical Allele Identifier: CA2580083589

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118572566G>A , CM000673.2:g.118572566G>A GRCh38
NC_000011.9:g.118443281G>A , CM000673.1:g.118443281G>A GRCh37
NC_000011.8:g.117948491G>A NCBI36
NG_051953.1:g.5180G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001655.5:c.3+16G>A (ARCN1) MANE Select NP_001646.2:n.3+16G>A
ENST00000264028.5:c.3+16G>A (ARCN1) MANE Select ENSP00000264028.4:n.3+16G>A
NM_001142281.1:c.3+16G>A (ARCN1) NP_001135753.1:n.3+16G>A
NM_001142281.2:c.3+16G>A (ARCN1) NP_001135753.1:n.3+16G>A
NM_001655.4:c.3+16G>A (ARCN1) NP_001646.2:n.3+16G>A
ENST00000264028.4:c.3+16G>A (ARCN1) ENSP00000264028.4:n.3+16G>A
ENST00000359415.8:c.-39+16G>A (ARCN1) ENSP00000352385.4:n.-39+16G>A
ENST00000392859.7:c.3+16G>A (ARCN1) ENSP00000376599.3:n.3+16G>A
ENST00000528378.5:c.-133+30C>T (IFT46) ENSP00000435278.1:n.-133+30C>T
ENST00000533918.5:c.-261+30C>T (IFT46) ENSP00000435750.1:n.-261+30C>T
ENST00000534114.5:c.-133+30C>T (IFT46) ENSP00000432982.1:n.-133+30C>T
ENST00000534182.2:c.3+16G>A (ARCN1) ENSP00000431676.1:n.3+16G>A
ENST00000614498.4:c.3+16G>A (ARCN1) ENSP00000482114.1:n.3+16G>A
XM_005271542.2:c.3+16G>A (ARCN1) XP_005271599.1:n.3+16G>A
XM_005271542.4:c.3+16G>A (ARCN1) XP_005271599.1:n.3+16G>A
XM_011542905.1:c.-133+30C>T (IFT46) XP_011541207.1:n.-133+30C>T
XM_011542905.3:c.-133+30C>T (IFT46) XP_011541207.1:n.-133+30C>T
XM_011542906.1:c.-133+30C>T (IFT46) XP_011541208.1:n.-133+30C>T
XM_011542906.3:c.-133+30C>T (IFT46) XP_011541208.1:n.-133+30C>T