Canonical Allele Identifier: CA1586766808
Gene: ANKHD1 HGNC NCBI
ANKHD1-EIF4EBP3 HGNC NCBI

Linked Data

dbSNP Id: rs1751350102

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140482954A>G , CM000667.2:g.140482954A>G GRCh38
NC_000005.9:g.139862539A>G , CM000667.1:g.139862539A>G GRCh37
NC_000005.8:g.139842723A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360839.7:c.1870+287A>G (ANKHD1) MANE Select ENSP00000354085.2:n.1870+287A>G
ENST00000246149.10:c.354+287A>G (ANKHD1)
ENST00000297183.10:c.-2982+287A>G (ANKHD1) ENSP00000297183.7:n.-2982+287A>G
ENST00000360839.6:c.1870+287A>G (ANKHD1) ENSP00000354085.2:n.1870+287A>G
ENST00000412116.5:c.88+287A>G (ANKHD1) ENSP00000405602.1:n.88+287A>G
ENST00000421134.5:c.1927+287A>G (ANKHD1) ENSP00000394489.1:n.1927+287A>G
ENST00000532219.5:c.1870+287A>G (ANKHD1-EIF4EBP3) ENSP00000432016.1:n.1870+287A>G
NM_017747.2:c.1870+287A>G (ANKHD1) NP_060217.1:n.1870+287A>G
NM_020690.5:c.1870+287A>G (ANKHD1-EIF4EBP3) NP_065741.3:n.1870+287A>G
NM_017747.3:c.1870+287A>G (ANKHD1) MANE Select NP_060217.1:n.1870+287A>G
NM_020690.6:c.1870+287A>G (ANKHD1-EIF4EBP3) NP_065741.3:n.1870+287A>G